Primary Immunodeficiencies



Primary immunodeficiencies (PIDs), once considered to be very rare, are now increasingly recognized because of growing knowledge in the immunological field and the availability of more sophisticated diagnostic techniques and therapeutic modalities [161]. However in a database of >120,000 inpatients of a general hospital for conditions suggestive of ID 59 patients were tested, and an undiagnosed PID was found in 17 (29%) of the subjects tested [107]. The publication of the first case of agammaglobulinemia by Bruton in 1952 [60] demonstrated that the PID diagnosis is first done in the laboratory. However, PIDs require specialized immunological centers for diagnosis and management [33]. A large body of epidemiological evidence supports the hypothesis of the existence of a close etiopathogenetic relation between PID and atopy [73]. In particular, an elevated frequency of asthma, food allergy (FA), atopic dermatitis and enteric pathologies can be found in various PIDs. In addition we will discuss another subject that is certainly of interest: the pseudo-immunodepressed child with recurrent respiratory infections (RRIs), an event that often requires medical intervention and that very often leads to the suspicion that it involves antibody deficiencies [149].


Allergy Clin Immunol Chronic Granulomatous Disease Otitis Medium With Effusion Autosomal Recessive Lower Respiratory Tract Infection 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


  1. 1.
    Abolghasemi H, Mehrani H, Amid A (2004) An update on the prevalence of glucose-6-phosphate dehydrogenase deficiency and neonatal jaundice in Tehran neonates. Clin Biochem 37:241–244PubMedCrossRefGoogle Scholar
  2. 2.
    Aghamohammadi A, Moin M, Farhoudi A et al (2002) Primary immunodeficiency in Iran: first report of the National Registry of PID in children and adults. J Clin Immunol 22:375–380PubMedCrossRefGoogle Scholar
  3. 3.
    Agudelo-Florez P, Costa-Carvalho BT, Lopez JA et al (2004) Association of glucose-6-phosphate dehydrogenase deficiency and X-linked chronic granulomatous disease in a child with anemia and recurrent infections. Am J Hematol 75:151–156PubMedCrossRefGoogle Scholar
  4. 4.
    Aiuti A, Slavin S, Aker M et al (2002) Correction of ADASCID by stem cell gene therapy combined with nonmyeloablative conditioning. Science 296:2410–2413PubMedCrossRefGoogle Scholar
  5. 5.
    Alarcón B, Regueiro JR, Arnaiz-Villena A et al (1988) Familial defect in the surface expression of the T-cell receptor-CD3 complex. NEngl J Med 319:1203–1208CrossRefGoogle Scholar
  6. 6.
    Allende LM, Lopez-Goyanes A, Paz-Artal E et al (2001) A point mutation in a domain of gamma interferon receptor 1 provokes severe immunodeficiency. Clin Diagn Lab Immunol 8:133–137PubMedCrossRefGoogle Scholar
  7. 7.
    Alon R, Aker M, Feigelson S et al (2003) A novel genetic leukocyte adhesion deficiency in subsecond triggering of integrin avidity by endothelial chemokines results in impaired leukocyte arrest on vascular endothelium under shear flow. Blood 101:4437–4445PubMedCrossRefGoogle Scholar
  8. 8.
    Altare F, Lammas D, Revy P et al (1998) Inherited interleukin 12 deficiency in a child with bacille Calmette-Guerin and Salmonella enteritidis disseminated infection. J Clin Invest 102:2035–2040PubMedGoogle Scholar
  9. 9.
    Ambruso DR, Knall C, Abell AN et al (2000) Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation. Proc Natl Acad Sci USA 97:4654–4659PubMedCrossRefGoogle Scholar
  10. 10.
    American Academy of Allergy and Immunology (1995) Committee report: the diagnosis and management of immunodeficiency. News Notes 1:7–10Google Scholar
  11. 11.
    Amiel J (2002) Devenir intellectuel des enfants atteints d’une microdélétion 22q11.2: suivi longitudinal monocentrique de 44 patients. Arch Pédiatr 9[Suppl 2]:102–103CrossRefGoogle Scholar
  12. 12.
    Ancliff PJ, Gale RE, Liesner R, Hann IM, Linch DC (2001) Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease. Blood 98:2645–2650PubMedCrossRefGoogle Scholar
  13. 13.
    Andre-Schmutz I, Le Deist F, Hacein-Bey-Abina S et al (2002) Immune reconstitution without graft-versus-host disease after haemopoietic stem-cell transplantation: a phase 1/2 study. Lancet 360:30–37CrossRefGoogle Scholar
  14. 14.
    Antoine C, Muller S, Cant A et al (2003) Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968–99. Lancet 361:553–560PubMedCrossRefGoogle Scholar
  15. 15.
    Arico M, Zecca M, Santoro N et al (2002) Successful treatment of Griscelli syndrome with unrelated donor allogeneic hematopoietic stem cell transplantation. Bone Marrow Transplant 29:995–998PubMedCrossRefGoogle Scholar
  16. 16.
    Ariga T, Nakanishi M, Tomizawa K et al (1992) Genetic heterogeneity in patients with X-linked recessive chronic granulomatous disease. Pediatr Res 31:516–519PubMedCrossRefGoogle Scholar
  17. 17.
    Arkwright PD, Abinun M, Cant AJ (2002) Autoimmunity in human primary immunodeficiency diseases. Blood 99: 2694–2702PubMedCrossRefGoogle Scholar
  18. 18.
    Arnaiz-Villena A, Timón M, Corell A et al (1992) Brief report: primary immunodeficiency caused by mutations in the gene encoding the CD3γ subunit of the T lymphocyte receptor. N Engl J Med 327:529–533PubMedCrossRefGoogle Scholar
  19. 19.
    Arnaiz-Villena A, Timön M, Rodriguez-Gallego C et al (1992) Human T-cell activation deficiencies. Immunol Today 13:259–265PubMedCrossRefGoogle Scholar
  20. 20.
    Arpaia E, Shahar M, Dadi H, Cohen A, Roifman CM (1994) Defective T cell receptor signaling and CD8+ thymic selection in humans lacking Zap-70 kinase. Cell 76:947–958PubMedCrossRefGoogle Scholar
  21. 21.
    Arredondo-Vega FX, Santisteban I, Daniels S, Toutain S, Hershfield MS (1998) Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles. Am J Hum Genet 63:1049–1059PubMedCrossRefGoogle Scholar
  22. 22.
    Ashman RF, Schaffer FM, Kemp JD et al (1992) Genetic and immunologic analysis of a family containing five patients with common variable immune deficiency or selective IgA deficiency. J Clin Immunol 12:406–414PubMedCrossRefGoogle Scholar
  23. 23.
    Aspenström P, Lindberg U, Hall A (1996) The two GTPases, Cdc42 and Rac, bind directly to a protein implicated in the immunodeficiency disorder Wiskott-Aldrich syndrome. Curr Biol 6:70–75PubMedCrossRefGoogle Scholar
  24. 24.
    Bagnasco M, Pesce F, Canonica GW (1991) Sindrome da deficiente adesione leucocitaria. G Ital Allergol Immunol Clin 1:63–66Google Scholar
  25. 25.
    Baguette C, Vermylen C, Brichard B et al (2002) Persistent developmental delay despite successful bone marrow transplantation for purine nucleoside phosphorylase deficiency. J Pediatr Hematol Oncol 24:69–71PubMedCrossRefGoogle Scholar
  26. 26.
    Bakoula CG, Kafritsa YJ, Kavadias CD et al (1995) Objective passive-smoking indicators and respiratory morbidity in young children. Lancet 346:280–281PubMedCrossRefGoogle Scholar
  27. 27.
    Barata LT, Henriques R, Hivroz C et al (2001) Primary immunodeficiency secondary to ZAP-70 deficiency. Acta Med Port 14:413–417PubMedGoogle Scholar
  28. 28.
    Barba G, Rittner C, Schneider PM (1993) Genetic basis of human complement C4A deficiency: detection of a point mutation leading to nonexpression. J Clin Invest 91: 1681–1686PubMedGoogle Scholar
  29. 29.
    Barlan IB, Bakir M, Tükenmez F, Basaran MM (1995) Longterm follow-up of patients with IgG subclass of IgA deficiencies (letter). Acta Pædiatr 84:828PubMedCrossRefGoogle Scholar
  30. 30.
    Barker JN, Krepski TP, DeFor TE, Davies SM, Wagner JE, Weisdorf DJ (2002) Searching for unrelated donor hematopoietic stem cells: availability and speed of umbilical cord blood versus bone marrow. Biol Blood Marrow Transplant 8:257–260PubMedCrossRefGoogle Scholar
  31. 31.
    Barrat FJ, Auloge L, Pastural E et al (1996) Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43. Am J Hum Genet 59:625–632PubMedGoogle Scholar
  32. 32.
    Bastian J, Law S, Vogler L et al (1989) Prediction of persistent immunodeficiency in the DiGeorge anomaly. J Pediatr 115:391–396PubMedCrossRefGoogle Scholar
  33. 33.
    Baumgart KW, Britton WJ, Kemp A, French M, Roberton D (1997) The spectrum of primary immunodeficiency disorders in Australia. J Allergy Clin Immunol 100:415–423PubMedCrossRefGoogle Scholar
  34. 34.
    Behar D, Schlesinger M, Halle D et al (2002) C7 complement deficiency in an Israeli Arab village. Am J Med Genet 110:25–29PubMedCrossRefGoogle Scholar
  35. 35.
    Bejaoui M, Barbouche MR et al (1997) Les déficits immunitaires primitif en Tunisie: étude de 152 cas. Arch Pédiatr 4:827–831PubMedCrossRefGoogle Scholar
  36. 36.
    Bellanti JA, Zeligs BJ (1994) Current concepts of immune interventions in children with respiratory diseases. Respiration 61[Suppl 1]:3–7PubMedCrossRefGoogle Scholar
  37. 37.
    Bene M, Faure G (2003) Ribosomal immunotherapy for recurrent respiratory tract infections in children. Paediatr Drugs 5:223–228PubMedGoogle Scholar
  38. 38.
    Benito A, Diaz MA, Alonso Fet al (1999) Successful unrelated umbilical cord blood transplantation in a child with Omenn’s syndrome. Pediatr Hematol Oncol 16:361–366PubMedCrossRefGoogle Scholar
  39. 39.
    Benkerrou M, Le Deist F, De Villartay JP et al (1997) Correction of Fas (CD95)deficiency by haploidentical bone marrow transplantation. Eur J Immunol 27:2043–2047PubMedCrossRefGoogle Scholar
  40. 40.
    Berber A, Del-Rio-Navarro B (2001) Compilation and meta-analysis of randomized placebo-controlled clinical trials on the prevention of respiratory tract infections in children using immunostimulants. J Invest Allergol Clin Immunol 11:211–219Google Scholar
  41. 41.
    Bernard-Oury C (1985) Aspect clinique et épidémiologique des déficits immunitaires. In: Journées parisiennes de pédiatrie. Flammarion, Paris, pp 88–94Google Scholar
  42. 42.
    Bernini JC (1996) Diagnosis and management of chronic neutropenia during childhood. Pediatr Clin North Am 43:773–792PubMedCrossRefGoogle Scholar
  43. 43.
    Berrocal T, Simon MJ, al-Assir I et al (1995) Shwachman-Diamond syndrome: clinical, radiological and sonographic aspects. Pediatr Radiol 25:289–292PubMedCrossRefGoogle Scholar
  44. 44.
    Berthet F, Le Deist F, Duliege AM, Griscelli C, Fischer A (1994) Clinical consequences and treatment of primary immunodeficiency syndromes characterized by functional T and B lymphocyte anomalies (combined immune deficiency). Pediatrics 93:265–270PubMedGoogle Scholar
  45. 45.
    Bertrand Y, Landais P, Friedrich W et al (1999) Influence of severe combined immunodeficiency phenotype on the outcome of HLA non-identical, T-cell-depleted bone marrow transplantation: a retrospective European survey from the European group for bone marrow transplantation and the European society for immunodeficiency. J Pediatr 134:740–748PubMedCrossRefGoogle Scholar
  46. 46.
    Bertrand Y, Muller SM, Casanova JL, Morgan G, Fischer A, Friedrich W (2002) Reticular dysgenesis: HLA non-identical bone marrowtransplants in a series of 10 patients. Bone Marrow Transplant 29:759–762PubMedCrossRefGoogle Scholar
  47. 47.
    Bhave SY (2001) Approach to recurrent respiratory infections. Indian J Pediatr 68[Suppl 2]:SS26–32Google Scholar
  48. 48.
    Bielorai B, Toren A, Wolach B et al (2000) Successful treatment of invasive aspergillosis in chronic granulomatous disease by granulocyte transfusions followed by peripheral blood stem cell transplantation. Bone Marrow Transplant 26:1025–1028PubMedCrossRefGoogle Scholar
  49. 49.
    Biron CA (1997) Activation and function of natural killer cell responses during viral infections. Curr Opin Immunol 9:24–34PubMedCrossRefGoogle Scholar
  50. 50.
    Bizario JC, Feldmann J, Castro FA et al (2004) Griscelli syndrome: characterization of a new mutation and rescue of T-cytotoxic activity by retroviral transfer of RAB27A gene. Clin Immunol 24:397–410CrossRefGoogle Scholar
  51. 51.
    Blaese RM, Culver KW, Miller AD et al (1995) T lymphocyte-directed gene therapy for ADA-SCID: initial trial results after 4 years. Science 270:475–480PubMedCrossRefGoogle Scholar
  52. 52.
    Bonduel M, Pozo A, Zelazko M et al (1999) Successful related umbilical cord blood transplantation for graft failure following T cell-depleted non-identical bone marrow transplantation in a child with major histocompatibility complex class II deficiency. Bone Marrow Transplant 24: 437–440PubMedCrossRefGoogle Scholar
  53. 53.
    Bonilla FA Geha RS (2003) Primary immunodeficiency diseases. J Allergy Clin Immunol 111:S571–S581PubMedCrossRefGoogle Scholar
  54. 54.
    Bordigon C, Notarangelo L, Nobili N et al (1995) Gene therapy in peripheral blood lymphocytes and bone marrow for ADA-immunodeficient patients. Science 270:470–475CrossRefGoogle Scholar
  55. 55.
    Bordigoni P, Auburtin B, Carret AS et al (1998) Bone marrow transplantation as treatment for X-linked immunodeficiency with hyper-IgM. Bone Marrow Transplant 22:1111–1114PubMedCrossRefGoogle Scholar
  56. 56.
    Borges WG, Augustine NH, Hill HR (2000) Defective interleukin-12/interferon-gamma pathway in patients with hyperimmunoglobulinemia E syndrome. J Pediatr 136: 176–180PubMedCrossRefGoogle Scholar
  57. 57.
    Brooimans RA, van den Berg AJ, Tamminga RY, Revesz T, Wulffraat NM, Zegers BJ (2000) Identification of six novel WASP gene mutations in patients suffering from Wiskott-Aldrich syndrome. Hum Mutat 15:386–387PubMedCrossRefGoogle Scholar
  58. 58.
    Broome CB, Graham ML, Saulsbury FT, Hershfield MS, Buckley RH (1996) Correction of purine nucleoside phosphorylase deficiency by transplantation of allogeneic bone marrow from a sibling. J Pediatr 128:373–376PubMedCrossRefGoogle Scholar
  59. 59.
    Brugnoni D, Airo P, Facchetti F et al (1997) In vitro cell death of activated lymphocytes in Omenn’s syndrome. Eur J Immunol 27:2765–2773PubMedCrossRefGoogle Scholar
  60. 60.
    Bruton OC (1952) Agammaglobulinemia. Pediatrics 9: 722–728PubMedGoogle Scholar
  61. 61.
    Buckley RH (1994) Breakthroughs in the understanding and therapy of primary immunodeficiency. Pediatr Clin North Am 41:665–690PubMedGoogle Scholar
  62. 62.
    Buckley RH (1996) Disorders of the IgE system. In: Stiehm ER (ed) Immunologic disorders in infants and children, 4th edn. WB Saunders, Philadelphia, pp 409–422Google Scholar
  63. 63.
    Buckley RH (2004) Molecular defect in human severe combined immunodeficiency and approaches to immune reconstitution. Annu Rev Immunol 22:625–655PubMedCrossRefGoogle Scholar
  64. 64.
    Buckley RH (2004) The hyper-IgE syndrome. In Stiehm ER, Ochs HD, Winkelstein JA (eds) Immunologic disorders in infants and children, 5th ed. Philadelphia: Elsevier Saunders 545–552Google Scholar
  65. 65.
    Buckley RH (2003) Transplantation immunology: organ and bone marrow. J Allergy Clin Immunol 111:S733–S744PubMedCrossRefGoogle Scholar
  66. 66.
    Buckley RH (2003) Treatment options for genetically determined immunodeficiency. Lancet 361:541–542PubMedCrossRefGoogle Scholar
  67. 67.
    Buckley RH (2004) A historical review of bone marrow transplantation for immunodeficiencies. J Allergy Clin Immunol 113:793–800PubMedCrossRefGoogle Scholar
  68. 68.
    Buckley RH, Schiff RI, Schiff SE et al (1997) Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. J Pediatr 130:378–387PubMedCrossRefGoogle Scholar
  69. 69.
    Buckley RH, Schiff SE, Schiff RI et al (1999) Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency. N Engl J Med 340:508–516PubMedCrossRefGoogle Scholar
  70. 70.
    Bundey S (1994) Clinical and genetic features of ataxiatelangiectasia. Int J Radiat Biol 66:S23–S29PubMedCrossRefGoogle Scholar
  71. 71.
    Bunting M, Harris ES, McIntyre TM, Prescott SM, Zimmerman GA (2002) Leukocyte adhesion deficiency syndromes: adhesion and tethering defects involving beta 2 integrins and selectin ligands. Curr Opin Hematol 9:30–35PubMedCrossRefGoogle Scholar
  72. 72.
    Burgio GR, Marseglia GR, Severi F et al (1994) Immunoactivation by pidotimod in children with recurrent respiratory infections. Arzneimittelforsch 44:1525–1529PubMedGoogle Scholar
  73. 73.
    Businco L, Cantani A, Fiore L, Betti P, Salvati L, Boscarelli S (1984) Current concepts on the relationships between immunodeficiency and allergy. Allergol Immunopathol 12: 497–507Google Scholar
  74. 74.
    Cale CM, Klein NJ, Novelli V, Veys P, Jones AM, Morgan G (1997) Severe combined immunodeficiency with abnormalities in expression of the common leucocyte antigen, CD45. Arch Dis Child 76:163–164PubMedGoogle Scholar
  75. 75.
    Callard RE, Armitage RJ, Fanslow WC, Spriggs MK (1993) CD40 ligand and its role in X-linked hyper-IgM syndrome. Immunol Today 14:559–564PubMedCrossRefGoogle Scholar
  76. 76.
    Candotti F (2000) The potential for therapy of immune disorders with gene therapy. Pediatr Clin North Am 47: 1389–1407PubMedCrossRefGoogle Scholar
  77. 77.
    Candotti F, Porta F, Mazzolari E et al (1992) Immunodeficienza combinata da deficit di espressione degli antigeni HLA di classe II: descrizione del primo caso italiano. Riv Ital Pediatr 18:223–227Google Scholar
  78. 78.
    Cano F, Mayo DR, Ballow M (1990) Absent specific viral antibodies in patients with transient hypogammaglobulinemia of infancy. J Allergy Clin Immunol 85:510–513PubMedCrossRefGoogle Scholar
  79. 79.
    Cantani A, Ferrara M (1988) The lung and primary immunodeficiencies. Allergol Immunopathol 16:429–437Google Scholar
  80. 80.
    Carbonari M, Cherchi M, Paganelli R et al (1990) Relative increase of T cells expressing the gamma/delta rather than the alpha/beta receptor in ataxia-telangiectasia. N Engl J Med 322:73–76PubMedCrossRefGoogle Scholar
  81. 81.
    Carnide EG, Jacob CA, Castro AM, Pastorino, AC (2005) Clinical and laboratory aspects of chronic granulomatous disease in description of eighteen patients. Pediatr Allergy Immunol 16:5–9PubMedCrossRefGoogle Scholar
  82. 82.
    Carlsson G, Fasth A (2001) Infantile genetic agranulocytosis, morbus Kostmann: presentation of six cases from the original “Kostmann family” and a review. Acta Pædiatr 90:757–764PubMedCrossRefGoogle Scholar
  83. 83.
    Carpenter PA, Ziegler JB, Vowels MR (1996) Late diagnosis and correction of purine nucleoside phosphorylase deficiency with allogeneic bone marrow transplantation. Bone Marrow Transplant 17:121–124PubMedGoogle Scholar
  84. 84.
    Casimir CM, Chetty M, Bohler M et al (1992) Identification of the NADPH-oxidase component in chronic granulomatous disease: a study of 57 European families. Eur J Clin Invest 22:403–406PubMedGoogle Scholar
  85. 85.
    Casper JT, Ash RA, Kirchner P, Hunter JB, Havens PL, Chusid MJ (1990) Successful treatment with unrelateddonor bone marrow transplant in an HLA-deficient patient with severe combined immune deficiency (“bare lymphocyte syndrome”). J Pediatr 116:262–265PubMedCrossRefGoogle Scholar
  86. 86.
    Castigli E, Geha RS, Chatila T (1993) Severe combined immunodeficiency with selective T-cell cytokine genes. Pediatr Res 33 [Suppl]:S20–S23PubMedCrossRefGoogle Scholar
  87. 87.
    Castigli E, Wilson SA, Gabribyan L et al (2005) TACI is mutant in common variable immunodeficiency and IgA deficiency. Nat Genet 37:829–834PubMedCrossRefGoogle Scholar
  88. 88.
    Celedon JC, Litonjua AA, Weiss ST, Gold DR (1999) Day care attendance in the first year of life and illnesses of the upper and lower respiratory tract in children with a familial history of atopy. Pediatrics 104:495–500PubMedCrossRefGoogle Scholar
  89. 89.
    Celedon JC, Litonjua AA Ryan L, Weiss ST, Gold DR (2002) Day care attendance, respiratory tract illnesses, wheezing, asthma and total serum IgE level in early childhood. Arch Pediatr Adolesc Med 156:241–245PubMedGoogle Scholar
  90. 90.
    Chatterjea-Matthes D, Garcia-Dieda ME, Dejbakhsh-Jones S, et al (2003) Early defect methynic in bone marrow T cell progenitors in athymic nu/nu mice. J Immunol 71:1207–1215Google Scholar
  91. 91.
    Chamlin SL, McCalmont TH, Cunningham BB et al (2002) Cutaneous manifestations of hyper-IgE syndrome in infants and children. J Pediatr 141:572–575PubMedCrossRefGoogle Scholar
  92. 92.
    Chan AC, Kadlecek TA, Elder ME et al (1994) Zap-70 deficiency in an autosomal recessive form of severe combined immunodeficiency. Science 264:1599–1561PubMedCrossRefGoogle Scholar
  93. 93.
    Chehimi J, Elder M, Greene J et al (2001) Cytokine and chemokine dysregulation in hyper-IgE syndrome. Clin Immunol 100:49–56PubMedCrossRefGoogle Scholar
  94. 94.
    Chessa L, Lisa A, Fiorani O, Zei G (1994) Ataxia-telangiectasia in Italy: genetic analysis. Int J Radiat Biol 66:S31–S33PubMedCrossRefGoogle Scholar
  95. 95.
    Chilosi M, Facchetti F, Notarangelo L et al (1996) CD30 cell expression and abnormal soluble CD30 serum accumulation in Omenn’s syndrome. Evidence for a Th2-mediated condition. Eur J Immunol 26:329–334PubMedCrossRefGoogle Scholar
  96. 96.
    Cipolli M, D’Orazio C, Delmarco A, Marchesini C, Miano A, Mastella G (1999) Shwachman’s syndrome: pathomorphosis and long-term outcome. J Pediatr Gastroenterol Nutr 29:265–272PubMedCrossRefGoogle Scholar
  97. 97.
    Clark RA, Malech HL, Gallin J L et al (1989) Genetic variants of chronic granulomatous disease: prevalence of deficiencies of two cytosolic components of the NADPH-oxidase system. N Engl J Med 321:647–652PubMedCrossRefGoogle Scholar
  98. 98.
    Classen CF, Schulz AS, Sigl-Kraetzig M et al (2001) Successful HLA-identical bone marrow transplantation in a patient with PNP deficiency using busulfan and fludarabine for conditioning. Bone Marrow Transplant 28:93–96PubMedCrossRefGoogle Scholar
  99. 99.
    Cobain TG, Stuckey MS, McCluskey J et al (1985) The coexistence of IgA deficiency and 21-hydroxylase deficiency marked by specific supra types. Ann N Y Acad Sci 458: 76–84PubMedCrossRefGoogle Scholar
  100. 100.
    Conley ME, Puck JM (1988) Carrier detection in typical and atypical X-linked agammaglobulinemia. J Pediatr 112:688–694PubMedCrossRefGoogle Scholar
  101. 101.
    Conley ME, Stiehm ER (1996) Immunodeficiency disorders: general considerations. In: Stiehm ER (ed) Immunologic disorders in infants and children, 4th edn. WB Saunders, Philadelphia, pp 201–252Google Scholar
  102. 102.
    Conley ME, Park CL, Douglas SD (1986) Childhood common variable immunodeficiency with autoimmune disease. J Pediatr 108:915–922PubMedCrossRefGoogle Scholar
  103. 103.
    Cooper MD, Haber P, Gathings WE, Mayumi M, Kuritani T, Briles DE (1983) Deficient IgA synthesis viewed in the contest of normal development of IgA B cells. Ann N Y Acad Sci 83:461–469CrossRefGoogle Scholar
  104. 104.
    Crooks GM, Weinberg KI, Parkman R, Lenarsky C, Blaese RM, Kohn DB (1995) Gene therapy for immune deficiency disorders. Prog Allergy Clin Immunol 3:286–289Google Scholar
  105. 105.
    Cunningham-Rundles C (2004) Disorders of the IgA system. In: Stiehm ER, Ochs HD, Winkelstein JA (eds) Immunologic disorders in infants and children, 5th edn. Elsevier, Saunders, Philadelphia, pp 427–446Google Scholar
  106. 106.
    Cunningham-Rundles C, Brandeis WE, Good RA, Day NK (1978) Milk precipitins, circulating immune complexes and IgA deficiency. Proc Natl Acad Sci U S A 75:3387–3389PubMedCrossRefGoogle Scholar
  107. 107.
    Cunningham-Rundles C, Sidi P, Estrella L, Doucette J (2004) Identifying undiagnosed primary immunodeficiency diseases in minority subjects by using computer sorting of diagnosis codes. J Allergy Clin Immunol 113:747–755PubMedCrossRefGoogle Scholar
  108. 108.
    Cunningham-Rundles C, Sidi P, Estrella L, Doucette J (2004) Identifying undiagnosed primary immunodeficiency diseases in minority subjects by using computer sorting of diagnosis codes. JAllergy Clin Immunol 113: 747–755CrossRefGoogle Scholar
  109. 109.
    Curnutte JT, Boxer LA (1993) Disorders of granulopoiesis and granulocyte function. In: Nathan DJ, Oski FA (eds) Hematology of infancy and childhood, 3rd edn. WB Saunders, Philadelphia, pp 797–847Google Scholar
  110. 110.
    Dalai I, Reid B, Nisbet-Brown E, Roifman CM (1998) The outcome of patients with hypogammaglobulinemia in infancy or early childhood. J Pediatr 133:144–146CrossRefGoogle Scholar
  111. 111.
    Dadi HK, Simon AJ, Roifman CM (2003) Effect of CD3d deficiency on maturation of α/β and γ/δ T-cell lineages in severe combined immunodeficiency. N Engl J Med 349:1821–1828PubMedCrossRefGoogle Scholar
  112. 112.
    Dale DC, Person RE, Bolyard AA et al (2000) Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood 96:2317–2322PubMedGoogle Scholar
  113. 113.
    De Baets F, Pauwels R, Schramme I, Leroy J (1991) IgG subclass specific antibody response in recurrent bronchitis. Arch Dis Child 66:1378–1382PubMedGoogle Scholar
  114. 114.
    De la Calle-Martin O, Hernandez M, Ordi J et al (2001) Familial CD8 deficiency due to a mutation in the CD8 alpha gene. J Clin Invest 108:117–123PubMedCrossRefGoogle Scholar
  115. 115.
    De la Salle H, Hanau D, Fricker D et al (1994) Homozygous human TAP peptide transporter mutation in HLA class I deficiency. Science 265:237–241 (Erratum, Science 1994; 266:1464]PubMedCrossRefGoogle Scholar
  116. 116.
    De Jong R, Altare F, Haagen IA et al (1998) Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients. Science 280:1435–1438PubMedCrossRefGoogle Scholar
  117. 117.
    De Saint-Basile G, le Deist F, de Villartay J-P et al (1991) Restricted heterogeneity of T lymphocytes in combined immunodeficiency with hypereosinophilia (Omenn’s syndrome). J Clin Invest 87:1352–1359PubMedGoogle Scholar
  118. 118.
    De Saint Basile G, Tabone MD, Durandy A, Phan F, Fischer A, Le Deist F 1999) CD40 ligand expression deficiency in a female carrier of the X-linked hyper-IgM syndrome as a result of X chromosome lyonization. Eur J Immunol 29: 367–373Google Scholar
  119. 119.
    De Santes KB, Lai SS, Cowan MJ (1996) Haploidentical bone marrow transplants for two patients with reticular dysgenesis. Bone Marrow Transplant 17:1171–1173PubMedGoogle Scholar
  120. 120.
    Del Prete G, Tiri A, Maggi E et al (1989) Defective in vitro production of gamma interferon and tumor necrosis factor alpha by circulating T cells from patients with the hyperimmunoglobulin E syndrome. J Clin Invest 84: 1830–1835PubMedGoogle Scholar
  121. 121.
    DeLisser HM, Christofidou-Solomidou M, Sun J, Nakada MT, Sullivan KE (1999) Loss of endothelial surface expression of E-selectin in a patient with recurrent infections. Blood 94:884–894PubMedGoogle Scholar
  122. 122.
    Doffinger R, Altare F, Casanova JL (2000) Genetic heterogeneity of Mendelian susceptibility to mycobacterial infection. Microbes Infect 2:1553–1557PubMedCrossRefGoogle Scholar
  123. 123.
    Doffinger R, Dupuis S, Picard C et al (2002) Inherited disorders of IL-12-and IFNgamma-mediated immunity: a molecular genetics update. Mol Immunol 38:903–909PubMedCrossRefGoogle Scholar
  124. 124.
    Dogu F, Ikinciogullari A, Babacan E (2004) Transient hypogammaglobullinemia of infancy and early infancy: outcome of 30 cases. Turk J Pediatr 46:120–124PubMedGoogle Scholar
  125. 126.
    Dorman SE, Holland SM (1998) Mutation in the signaltransducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection. J Clin Invest 101:2364–2369PubMedGoogle Scholar
  126. 127.
    Dragon-Durey MA, Quartier P, Fremeaux-Bacchi V et al (2001) Molecular basis of a selective C1s deficiency associated with early onset multiple autoimmune diseases. J Immunol 166:7612–7616PubMedGoogle Scholar
  127. 128.
    Dranitzki Z, Ulmansky R, Szafer F et al (1996) Familial congenital CD4 T cell deficiency: a new syndrome of immune deficiency. N Engl J Med 97:392AGoogle Scholar
  128. 129.
    Dressier F, Peter HH, Müller W, Rieger CHL (1989) Transient hypogammaglobulinemia of infancy. Acta Paediatr Scand 78:767–774CrossRefGoogle Scholar
  129. 130.
    Driscoll AD, Budarf ML, Emanuel BS (1992) A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. Am J Hum Genet 50:924–933PubMedGoogle Scholar
  130. 131.
    Duplantier JE, Seyama K, Day NK et al (2001) Immunologic reconstitution following bone marrow transplantation for X-linked hyper IgM syndrome. Clin Immunol 98: 313–318PubMedCrossRefGoogle Scholar
  131. 132.
    Dupuis-Girod S, Medioni J, Haddad E et al (2003) Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients. Pediatrics 111:e622–e627PubMedCrossRefGoogle Scholar
  132. 133.
    Dupuis S, Jouanguy E, Al-Hajjar S, et al (2003) Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency. Nat Genet 33:388–391PubMedCrossRefGoogle Scholar
  133. 134.
    Dumont C, Blanchard N, Di Bartolo V et al (2002) TCR/ CD3 down-modulation and zeta degradation are regulated by ZAP-70. J Immunol 169:1705–1712PubMedGoogle Scholar
  134. 135.
    Dwyer JM (1992) Manipulating the immune system with immune globulin. N Engl J Med 326:107–116PubMedCrossRefGoogle Scholar
  135. 136.
    Dyke MP, Marlow N, Perry PJ (1991) Omenn’s syndrome. Arch Dis Child 66:1247–1248PubMedGoogle Scholar
  136. 137.
    Ekanem EE, Umotong AB, Raykundalia C, Catty D (1997) Serum C-reactive protein and C3 complement protein levels in severely malnourished Nigerian children with and without bacterial infections. Acta Paediatr 86:1317–1320PubMedCrossRefGoogle Scholar
  137. 138.
    El Habbal MH, Strobel S (1993) Leucocyte adhesion deficiency. Arch Dis Child 69:463–466PubMedGoogle Scholar
  138. 139.
    Elder ME, Lin D, Clever J et al (1994) Human severe combined immunodeficiency due to a defect of ZAP70, a T cell tyrosine kinase. Science 264:1597–1599CrossRefGoogle Scholar
  139. 140.
    Elder ME, Hope TJ, Parslow TG, Umetsu DT, Wara DW, Cowan MJ (1995) Severe combined immunodeficiency with absence of peripheral blood CD8+ T cells due to ZAP-70 deficiency. Cell Immunol 165:110–117PubMedCrossRefGoogle Scholar
  140. 141.
    Eley B, Beauty D (2000) Primary immunodeficiency diseases in Cape Town. ACI Intern 12:267–270Google Scholar
  141. 142.
    Elloumi-Zghal H, Barbouche MR, Chemli J et al (2002) Clinical and genetic heterogeneity of inherited autosomal recessive susceptibility to disseminated Mycobacterium bovis bacille Calmette-Guerin infection. J Infect Dis 185: 1468–1475PubMedCrossRefGoogle Scholar
  142. 143.
    Epstein ME, Gruskay F (1995) Selective deficiency in pneumococcal antibody response in children with recurrent infections. Ann Allergy Asthma Immunol 75:125–131PubMedGoogle Scholar
  143. 144.
    Erlewyn-Lajeunesse MDS (2000) Hyperimmunoglobulin-E syndrome with recurrent infection: a review of current opinion and treatment. Pediatr Allergy Immunol 11: 133–141PubMedCrossRefGoogle Scholar
  144. 145.
    Etzioni A, Harlan JM (2003) Cell adhesion and leukocyte adhesion defects. In: Smith ED, Puck J, Ochs, HG (eds) Primary immune deficiency disease. A molecular and genetic approach. 2nd edn. Oxford University Press, OxfordGoogle Scholar
  145. 146.
    Etzioni A, Ochs HD (2004) The Hyper IgM syndrome-an evolving story. Pediatr Res 56:519–525PubMedCrossRefGoogle Scholar
  146. 147.
    Facchetti F, Appiani C, Salvi L et al (1995) Immunohistologic analysis of ineffective CD40-CD40 ligand interaction in lymphoid tissues from patients with X-linked immunodeficiency with hyper-IgM. J Immunol 154:6624–6633PubMedGoogle Scholar
  147. 148.
    Fagioli F, Biasin E, Berger M et al (2003) Successful unrelated cord blood transplantation in two children with severe combined immunodeficiency syndrome. Bone Marrow Transplant 31:133–136PubMedCrossRefGoogle Scholar
  148. 149.
    Farhoudi A, Aghamohammadi A, Moin M et al (2005) Distribution of primary immunodeficiency disorders diagnosed in the Children’s Medical Center in Iran. J Investig Allergol Clin Immunol 15:177–782PubMedGoogle Scholar
  149. 150.
    Farrington M, Grosmaire LS, Nonoyama S et al (1994) CD40 ligand expression is defective in a subset of patients with common variable immunodeficiency. Proc Natl Acad Sci U S A 91:1099–1103PubMedCrossRefGoogle Scholar
  150. 151.
    Fasth A (1982). Primary immunodeficiency disorders in Sweden: cases among children 1974–1979. J Clin Immunol 2:86–92PubMedCrossRefGoogle Scholar
  151. 152.
    Featherstone C (1996) How does one gene cause Wiskott-Aldrich syndrome? Lancet 348:950PubMedCrossRefGoogle Scholar
  152. 153.
    Ferrante A (1991) IgG subclass deficiency. Pediatr Allergy Immunol 2:49–62CrossRefGoogle Scholar
  153. 154.
    Feske S, Muller JM, Graf D et al (1996) Severe combined immunodeficiency due to defective binding of the nuclear factor of activated T cells in T lymphocytes of two male siblings. Eur J Immunol 26:2119–2126PubMedCrossRefGoogle Scholar
  154. 155.
    Figueroa JE, Densen P (1991) Infectious diseases associated with complement deficiencies. Clin Microbiol Rev 4: 359–395PubMedGoogle Scholar
  155. 156.
    Fijen CA, Kuijper EJ, te Bulte MT et al (1999) Assessment of complement deficiency in patients with meningococcal disease in the Netherlands. Clin Infect Dis 28:98–105PubMedCrossRefGoogle Scholar
  156. 157.
    Fijen CA, Kuijper EJ, Te Bulte M et al (1996) Heterozygous and homozygous factor H deficiency states in a Dutch family. Clin Exp Immunol 105:511–516PubMedCrossRefGoogle Scholar
  157. 158.
    Filipovich AH, Stone JV, Tomany SC et al (2001) Impact of donor type on outcome of bone marrow transplantation for Wiskott-Aldrich syndrome: collaborative study of the International Bone Marrow Transplant Registry and the National Marrow Donor Program. Blood 97:1598–1603PubMedCrossRefGoogle Scholar
  158. 159.
    Finn A, Hadzic N, Morgan G et al (1990) Prognosis of chronic granulomatous disease. Arch Dis Child 65: 1422–1432Google Scholar
  159. 160.
    Finocchi A, Angelini F, Chini L et al (2002) Evaluation of the relevance of humoral immunodeficiencies in a pediatric population. Pediat Allergy Immunol 13:443–447CrossRefGoogle Scholar
  160. 161.
    Fischer A, Notarangelo L, Candotti F, et al (2004) Combined immunodeficiencies. In Stiehm ER, Ochs HD, Winkelstein JA. Immunologic disorders in infants and children, 5th ed. Philadelphia: Elsevier Saunders pp. 447–479Google Scholar
  161. 162.
    Fischer A, Arnaiz-Villena A (1995) Immunodeficiencies of genetic origin. Immunol Today 18:510–514CrossRefGoogle Scholar
  162. 163.
    Fischer A, Landais P, Friedrich W et al (1994) Bone marrow transplantation (BMT) in Europe for primary immunodeficiencies other than severe combined immunodeficiency: a report from the European Group for BMT and the European Group for Immunodeficiency. Blood 83: 1149–1154PubMedGoogle Scholar
  163. 164.
    Flake AW, Roncarolo M-G, Puck GM et al (1996) Treatment of X-linked severe combined immunodeficiency by in utero transplantation of paternal bone marrow. N Engl J Med 335:1806–1810PubMedCrossRefGoogle Scholar
  164. 165.
    Folds JD, Schmitz JL (2003) Clinical and laboratory assessment of immunity. J Allergy Clin Immunol lll:S702–S711CrossRefGoogle Scholar
  165. 166.
    Förster H-H, Wäsch R, Kretschmar T et al (1995) Genetic markers on chromosome 19p and prenatal diagnosis of HLA class II-deficient combined immunodeficiency. Pediatr Res 38:812–816PubMedCrossRefGoogle Scholar
  166. 167.
    Frank MM (2000) Complement deficiencies. Pediatr Clin North Am 47:1339–1354PubMedCrossRefGoogle Scholar
  167. 168.
    Freier S, Kerem E, Dranitszki Z et al (1998) Hereditary CD4+ T lymphocytopenia. Arch Dis Child 78:371–372PubMedGoogle Scholar
  168. 169.
    Frémaux-Bacchi V, Blouin J, Weiss L (1994) L’exploration du système du complément en pratique clinique. Arch Pédiatr 1:71–77Google Scholar
  169. 170.
    French MAH, Dawkins RL (1990) Central MHC genes, IgA deficiency and autoimmune disease. Immunol Today 11: 271–274PubMedCrossRefGoogle Scholar
  170. 171.
    Frenette PS, Mayadas TN, Rayburn M, Hynes RO, Wagner DD (1996) Susceptibility to infection and altered hematopoiesis in mice deficient in both Pand E-selectin. Cell 84:563–574PubMedCrossRefGoogle Scholar
  171. 172.
    Frick OL (1986) Effect of respiratory and other virus infections on IgE immunoregulation. J Allergy Clin Immunol 78:1013–1018PubMedCrossRefGoogle Scholar
  172. 173.
    Frick OL, German DF, Mills J (1979) Development of allergy in children. I. Association with virus infections. J Allergy Clin Immunol 63:228–241PubMedCrossRefGoogle Scholar
  173. 174.
    Galli E, Barbieri C, Cantani A, Solano A, Longhi MA, Businco L (1990) Treatment with gammaglobulin preparation for use in children with humoral immunodeficiency: clinical and immunological follow-up. Ann Allergy 64:147–150PubMedGoogle Scholar
  174. 175.
    Garred P, Madsen HO, Hofmann B, Svejgaard A (1995) Increased frequency of homozygosity of abnormal mannan-binding-protein alleles in patients with suspected immunodeficiency. Lancet 346:941–943PubMedCrossRefGoogle Scholar
  175. 176.
    Gatti RA, Boder E, Vinters HV, Sparkes RS, Norman A, Lange K (1991) Ataxia-telangiectasia: an interdisciplinary approach to pathogenesis. Medicine 70:99–117PubMedCrossRefGoogle Scholar
  176. 177.
    Gaur S, Kesarwala H, Gavai M, Gupta M, Whitley-Williams P, Frenkel LD (1994) Clinical immunology and infectious diseases. Pediatr Clin North Am 41:745–782PubMedGoogle Scholar
  177. 178.
    Geha RS, Leung DYM (1993) Immunoglobulin E syndrome. In: Rosen F, Seligman M (eds) Immunodeficiencies. Harwood, London, pp 571–584Google Scholar
  178. 179.
    Gelfand EW, Weinberg R, Mazer BD, Kadlecek TA, Weiss A (1995) Absence of ZAP-70 prevents signaling through the antigen receptor on peripheral blood T cells but not on thymocytes. J Exp Med 182:1057–1066PubMedCrossRefGoogle Scholar
  179. 180.
    Gennery AR, Khawaja K, Veys P et al (2004) Treatment of CD40 ligand deficiency by hematopoietic stem cell transplantation: a survey of the European experience, 1993–2002. Blood 103:1152–1157PubMedCrossRefGoogle Scholar
  180. 181.
    Gerdes M, Solot C, Wang PP, McDonald-McGinn DM, Zackai EH (2001) Taking advantage of early diagnosis: preschool children with the 22q11.2 deletion. Genet Med 3:40–44PubMedGoogle Scholar
  181. 182.
    Gil J, Porta F, Bartolome J et al (1999) Immune reconstitution after in utero bone marrow transplantation in a fetus with severe combined immunodeficiency with natural killer cells. Transplant Proc 31:2581PubMedCrossRefGoogle Scholar
  182. 183.
    Gill SL, Smyth C, Wong M, et al (2004) A novel splice-mutation in the common gamma chain (γc) gene IL2Rγ results in X-linked severe combined immunodeficiency with an atypical NK+ phenotype. Hum Mutat 23:522–523Google Scholar
  183. 184.
    Gilmour KC, Walshe D, Heath S et al (2003) Immunological and genetic analysis of 65 patients with a clinical suspicion of X linked hyper-IgM. Mol Pathol 56:256–262PubMedCrossRefGoogle Scholar
  184. 185.
    Goldman FD, Ballas ZK, Schulte BC, et al (1998) Defective expression of p56lck in an infant with severe combined immunodeficiency. J Clin Invest 102:421–429PubMedGoogle Scholar
  185. 186.
    Gollob JA, Veenstra KG, Jyonouchi H et al (2000) Impairment of STAT activation by IL-12 in a patient with atypical mycobacterial and staphylococcal infections. J Immunol 165:4120–4126PubMedGoogle Scholar
  186. 187.
    Gombart AF, Kwok SH, Anderson KL, Yamaguchi Y, Torbett RE, Koeffler HP (2003) Regulation of neutrophil and eosinophil secondary granule gene expression by transcription factors C/EBPepsilon and PU.1. Blood 101: 3265–3273PubMedCrossRefGoogle Scholar
  187. 188.
    Gomez L, Le Deist F, Blanche S, Cavazzana-Calvo M, Griscelli C, Fischer A (1995) Treatment of Omenn syndrome by bone marrow transplantation J Pediatr 127: 76–81PubMedCrossRefGoogle Scholar
  188. 189.
    Gougeon ML, Drean G, Le Deist F et al (1990) Human severe combined immunodeficiency disease. Phenotypic and functional characteristics of peripheral B lymphocytes. J Immunol 145:2873–2879PubMedGoogle Scholar
  189. 190.
    Goundis D, Holt SM, Boyd Y et al (1989) Localization of the properdin structural locus to Xpll.23-Xp21.1. Genomics 5:56–60PubMedCrossRefGoogle Scholar
  190. 191.
    Grant EN, Landay AL, Siegel JN, Kaufman MS, Mosiman VL, Richmond GW (1996) Cellular and cytokine abnormalities in common variable immunodeficiency. J Allergy Clin Immunol 97:394ACrossRefGoogle Scholar
  191. 192.
    Greenberg F (1989) Hypoparathyroidism and the DiGeorge syndrome. N Engl J Med 320:1146–1147PubMedGoogle Scholar
  192. 193.
    Gregorek H, Chrzanowska KH, Michalkiewicz J, Syczewska M, Madalinski K (2002) Heterogeneity of humoral immune abnormalities in children with Nijmegen breakage syndrome: an 8-year follow-up study in a single centre. Clin Exp Immunol 130:319–224PubMedCrossRefGoogle Scholar
  193. 194.
    Grewal SS, Barker JN, Davies SM, Wagner JE (2003) Unrelated donor hematopoietic cell transplantation: marrow or umbilical cord blood? Blood 101:4233–4244PubMedCrossRefGoogle Scholar
  194. 195.
    Grimbacher B, Schaffer AA, Holland SM et al (1999) Genetic linkage of hyper-IgE syndrome to chromosome 4. Am J Hum Genet 65:735–744PubMedCrossRefGoogle Scholar
  195. 196.
    Griscelli C, Fischer A (1994) Manifestations allergiques et déficits immunitaires héréditaires. In: Paupe J, Scheinmann P, De Blic J (eds) Allergologie pédiatrique, 2nd edn. Flammarion, Paris, pp 95–98Google Scholar
  196. 197.
    Groeneweg M, Hartwig NG, Poerink-Stockschlader AB, Schweizer JJ, Bijleveld CM, Bredius RG (2003) Two children with severe recurrent infections and the X-linked hyper-IgM syndrome. Ned Tijdschr Geneeskd 147: 1024–1028PubMedGoogle Scholar
  197. 198.
    Gross S, Blaiss MS, Herrod HG (1992) Role of immunoglobulin subclasses and specific antibody determinations in the evaluation of recurrent infection in children. J Pediatr 121:516–522PubMedCrossRefGoogle Scholar
  198. 199.
    Gross TG, Filipovich AH, Conley ME et al (1996) Cure of X-linked lymphoproliferative disease (XLP) with allogeneic hematopoietic stem cell transplantation (HSCT): report from the XLP registry. Bone Marrow Transplant 17:741–744PubMedGoogle Scholar
  199. 200.
    Grumach AS, Duarte AJ, Bellinati-Pires R et al (1997) Brazilian report on primary immunodeficiencies in children: 166 cases studied over a follow-up time of 15 years. J Clin Immunol 17:340–345PubMedCrossRefGoogle Scholar
  200. 201.
    Grunebaum E, Mazzolari E, Porta F et al (2006) Bone marrow transplantation for severe combined immune deficiency. JAMA 295:508–518PubMedCrossRefGoogle Scholar
  201. 202.
    Güneser S, Altintas DU, Aksungur P, Hergüner Ö, Sanal Ö (1996) An infant with severe leukocyte adhesion deficiency. Acta Pædiatr 85:622–624PubMedCrossRefGoogle Scholar
  202. 203.
    Habermehl P, Althoff S, Knuf M, Hopner JH (2003) Griscelli syndrome: a case report. Klin Padiätr 215:82–85PubMedCrossRefGoogle Scholar
  203. 204.
    Hacein-Bey-Abina S, Le Deist F, Carlier F et al (2002) Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy. N Engl J Med 346: 1185–1193PubMedCrossRefGoogle Scholar
  204. 205.
    Haddad E, Le Deist F, Blanche S et al (1995) Treatment of Chediak-Higashi syndrome by allogenic bone marrow transplantation: report of 10 cases. Blood 85:3328–3333PubMedGoogle Scholar
  205. 206.
    Haddad E, Landais P, Friedrich W et al (1998) Long-term immune reconstitution and outcome after HLA-nonidentical T-cell-depleted bone marrow transplantation for severe combined immunodeficiency: a European retrospective study of 116 patients. Blood 91:3646–3653PubMedGoogle Scholar
  206. 207.
    Haddad E, Le Deist F, Aucouturier P et al (1999) Long-term chimerism and B-cell function after bone marrow transplantation in patients with severe combined immunodeficiency with B cells: a single-center study of 22 patients. Blood 94:2923–2930PubMedGoogle Scholar
  207. 208.
    Hadi N, Pagliuca A, Rela M et al (2000) Correction of the hyper-IgM syndrome after liver and bone marrow transplantation. N Engl J Med 342:320–324CrossRefGoogle Scholar
  208. 209.
    Hale LP, Buckley RH, Puck JM, Patel DD (2004) Abnormal development of thymic dendritic and epithelial cells in human X-linked severe combined immunodeficiency. Clin Immunol 110:63–70PubMedCrossRefGoogle Scholar
  209. 210.
    Haraguchi S, Day NK, Nelson RPJr et al (1998) Interleukin 12 deficiency associated with recurrent infections. Proc Natl Acad Sci U S A 95:13125–13129PubMedCrossRefGoogle Scholar
  210. 211.
    Hartel C, Strunk T, Bucsky P, Schultz C (2004) Failure to thrive in a 14-month-old boy with lymphopenia and eosinophilia. Klin Pädiatr 216:24–25PubMedCrossRefGoogle Scholar
  211. 212.
    Hartmann D, Fremeaux-Bacchi V, Weiss L et al (1997) Combined heterozygous deficiency of the classical complement pathway proteins C2 and C4. J Clin Immunol 17:176–184PubMedCrossRefGoogle Scholar
  212. 213.
    Hausser C, Virelizier J-L, Buriot D, Griscelli C (1983) Common variable hypogammaglobulinemia in children: clinical and immunologic observations in 30 patients. Am J Dis Child 137:833–837PubMedGoogle Scholar
  213. 214.
    Hayakawa H, Iwata T, Yata J, Kobayashi N (1981) Primary immunodeficiency syndromes in Japan. I. Overview of a nationwide survey on primary immunodeficiency syndrome. J Clin Immunol 1:31–39PubMedCrossRefGoogle Scholar
  214. 215.
    Hayward AR, Harvey BAM, Leonard J, Greenwood MC, Wood CBS, Soothill JF (1979) Delayed separation of the umbilical cord, widespread infections, and defective neutrophil mobility. Lancet i:1099–1101CrossRefGoogle Scholar
  215. 216.
    Herrod HG, Raby RB, Valenski WR, Gross S (1995) Cellmediated immune status of children with recurrent infection. J Pediatr 126:530–536PubMedCrossRefGoogle Scholar
  216. 217.
    Herrod HG, Blaiss MS, Valenski WR, Hutchinson SR, Nastasi KJ, Conley ME (1996) Cytokine production and IgE in Wiskott-Aldrich syndrome patients. J Allergy Clin Immunol 97:391ACrossRefGoogle Scholar
  217. 218.
    Hidalgo H, Moore C, Leiva LE, Sorensen RU (1996) Preimmunization and postimmunization pneumococcal antibody titers in children with recurrent infections. Ann Allergy Asthma Immunol 76:341–346PubMedGoogle Scholar
  218. 219.
    Hirschhorn R (1993) Overview of biochemical abnormalities and molecular genetics of adenosine deaminase deficiency. Pediatr Res 33[Suppl 1]:S35–S41PubMedGoogle Scholar
  219. 220.
    Hoare S, El-Shazali O, Clark JE, Fay A, Cant AJ (2002) Investigation for complement deficiency following meningococcal disease. Arch Dis Child 86:215–217PubMedCrossRefGoogle Scholar
  220. 221.
    Holberg CJ, Wright AL, Martinez FD et al (1993) Child day-care, smoking by caregivers, and lower respiratory tract illness in the first three years of life. Pediatrics 91:885–892PubMedGoogle Scholar
  221. 222.
    Holzinger A, Trapnell BC, Weaver TE, Whitsett JA, Iwamoto HS (1995) Intraamniotic administration of an adenoviral vector for gene transfer to fetal sheep and mouse tissues. Pediatr Res 38:844–850PubMedCrossRefGoogle Scholar
  222. 223.
    Hon KL, Leung CW, Cheng WTF et al (2003) Clinical presentations and outcome of severe acute respiratory syndrome in children. Lancet 361:1701–1703PubMedCrossRefGoogle Scholar
  223. 224.
    Hong R (1996) Disorders of the T-cell system. In: Stiehm ER (ed) Immunologic disorders in infants and children, 4th edn. WB Saunders, Philadelphia, pp 339–408Google Scholar
  224. 225.
    Horwitz M, Benson KF, Person RE, Aprikyan AG, Dale DC (1999) Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. Nat Genet 23:433–436PubMedCrossRefGoogle Scholar
  225. 226.
    Hsu CT, Lin YT, Yang YH, Chiang BL (2004) The hyperimmunoglobulin E syndrome. J Microbiol Immunol Infect 37:121–123PubMedGoogle Scholar
  226. 227.
    Huston DP, Kavanaugh AF, Rohane PW, Huston MM (1991) Immunoglobulin deficiency syndromes and therapy. J Allergy Clin Immunol 87:1–17PubMedCrossRefGoogle Scholar
  227. 228.
    Infante AJ, Britton HA, DeNapoli T et al (1998) The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis. J Pediatr 133:629–633PubMedCrossRefGoogle Scholar
  228. 229.
    Introne W, Boissy RE, Gahl WA (1999) Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome. Mol Genet Metab 68:283–303PubMedCrossRefGoogle Scholar
  229. 230.
    Jaatinen T, Ruuskanen O, Truedsson L, Lokki ML (1999) Homozygous deletion of the CYP21A-TNXA-RP2-C4B gene region conferring C4B deficiency associated with recurrent respiratory infections. Hum Immunol 60:707–714PubMedCrossRefGoogle Scholar
  230. 231.
    Jabado N, Le Deist F, Cant A et al (1996) Bone marrow transplantation from genetically HLA-nonidentical donors in children with fatal inherited disorders excluding severe combined immunodeficiencies: use of two monoclonal antibodies to prevent graft rejection. Pediatrics 98:420–428PubMedGoogle Scholar
  231. 232.
    Jaffe JS, Eisenstein E, Sneller MC, Strober W (1993) T-cell abnormalities in common variable immunodeficiency. Pediatr Res 33:S24–S28PubMedCrossRefGoogle Scholar
  232. 233.
    Jain A, Ma CA, Liu S, Brown M, Cohen J, Strober W (2001) Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia. Nat Immunol 2:223–228PubMedCrossRefGoogle Scholar
  233. 234.
    Jalloh A, Tantular IS, Pusarawati S et al (2004) Rapid epidemiologic assessment of glucose-6-phosphate dehydrogenase deficiency in malaria-endemic areas in Southeast Asia using a novel diagnostic kit. Trop Med Int Health 9:615–623PubMedCrossRefGoogle Scholar
  234. 235.
    Jamal T, Barbouche MR, Ben Hariz M, Bejaoui M, Fathallah MD, Dellagi K (1998) Genetic and immunological assessment of a bone marrow transplantation in a patient with a primary immune defect: leukocyte adhesion deficiency. Arch Inst Pasteur Tunis 75:177–183PubMedGoogle Scholar
  235. 236.
    Javier FC, Moore CM, Sorensen RU (2000) Distribution of primary immunodeficiency diseases diagnosed in a pediatrie tertiary hospital. Ann Allergy Asthma Immunol 84:25–39PubMedGoogle Scholar
  236. 237.
    Jeha S, Chan KW, Aprikyan AG et al (2000) Spontaneous remission of granulocyte colony-stimulating factor-associated leukemia in a child with severe congenital neutropenia. Blood 96:3647–3649PubMedGoogle Scholar
  237. 238.
    Johnson CA, Densen CB, Wetsel RA, Cole ES, Goeken NE, Colten HR (1992) Molecular heterogeneity of C2 deficiency. N Engl J Med 326:871–874PubMedCrossRefGoogle Scholar
  238. 239.
    Johnston RB Jr (1996) Disorders of the complement system. In: Stiehm ER (ed) Immunologic disorders in infants and children, 4th edn. WB Saunders, Philadelphia, pp 490–509Google Scholar
  239. 240.
    Jones A, Bradley L, Alterman L et al (1996) X linked agammaglobulinemia with a “leaky” phenotype. Arch Dis Child 74:548–549PubMedCrossRefGoogle Scholar
  240. 241.
    Jouan H, Le Deist F, Nezelof C (1987) Omenn’s syndromepathologic arguments in favor of a graft versus host pathogenesis: a report of nine cases. Hum Pathol 18: 1101–1108PubMedGoogle Scholar
  241. 242.
    Jouanguy E, Altare F, Lamhamedi S et al (1996) Interferongamma-receptor deficiency in an infant with fatal bacille Calmette-Guerin infection. N Engl J Med 335:1956–1961PubMedCrossRefGoogle Scholar
  242. 243.
    Jouanguy E, Lamhamedi-Cherradi S, Altare F et al (1997) Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guerin infection and a sibling with clinical tuberculosis. J Clin Invest 100: 2658–2664PubMedGoogle Scholar
  243. 244.
    Jouanguy E, Dupuis S, Pallier A et al (2000) In: a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma. J Clin Invest 105: 1429–1436PubMedGoogle Scholar
  244. 245.
    Jung LK, Fu SM, Hara T, Kapoor N, Good RA (1986) Defective expression of T cell-associated glycoprotein in severe combined immunodeficiency. J Clin Invest 77:940–946PubMedGoogle Scholar
  245. 246.
    Junker AK, Chan KW, Massing BG (1989) Clinical and immune recovery from Omenn syndrome after bone marrow transplantation. J Pediatr 114:596–600PubMedCrossRefGoogle Scholar
  246. 247.
    Kaiman L, Lindegren ML, Kobrynski L et al (2004) Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency. Genet Med 6:16–26Google Scholar
  247. 248.
    Kane L, Gennery AR, Crooks BNA, Flood TJ, Abinun M, Cant AJ (2001) Neonatal bone marrow transplantation for severe combined immunodeficiency Arch Dis Child Fetal Neonatal Ed 85:F110–F113PubMedCrossRefGoogle Scholar
  248. 249.
    Kappes DJ, Alarcön B, Regueiro JR (1995) T lymphocyte receptor deficiencies. Curr Opin Immunol 7:441–447PubMedCrossRefGoogle Scholar
  249. 250.
    Kastan MB, Zhan Q, Wafik SE-D et al (1992) A mammalian cell cycle checkpoint pathway utilizing p53 and GADD45 is defective in ataxia-telangiectasia. Cell 71:587–597PubMedCrossRefGoogle Scholar
  250. 251.
    Kata CJ, Glimcher LH (1993) Three in vivo promoter phenotypes in MHC class II deficient combined immunodeficiency. Immunogenetics 37:227–230Google Scholar
  251. 252.
    Khawaja K, Gennery AR, Flood TJ, Abinun M, Cant AJ (2001) Bone marrow transplantation for CD40 ligand deficiency: a single centre experience. Arch Dis Child 84:508–511PubMedCrossRefGoogle Scholar
  252. 253.
    Kilic SS, Tezcan I, Sanal O, Metin A, Ersoy F (2000) Transient hypogammaglobulinemia of infancy: clinical and immunologic features of 40 new cases. Pediatr Int 42: 647–650PubMedCrossRefGoogle Scholar
  253. 254.
    Kimata H (1995) High-dose intravenous γ-globulin treatment for hyperimmunoglobulinemia E syndrome. J Allergy Clin Immunol 95:771–774PubMedCrossRefGoogle Scholar
  254. 255.
    Kinashi T, Aker M, Sokolovsky-Eisenberg M et al (2004) LAD-III, a leukocyte adhesion deficiency syndrome associated with defective Rapl activation and impaired stabilization of integrin bonds. Blood 103:1033–1036PubMedCrossRefGoogle Scholar
  255. 256.
    Klein C, Lisowska-Grospierre B, Le Deist F, Fischer A (1993) Major histocompatibility complex class II deficiency: clinical manifestations, immunologic features, and outcome. J Pediatr 123:921–928PubMedCrossRefGoogle Scholar
  256. 257.
    Klein C, Cavazzana-Calvo M, Le Deist F et al (1995) Bone marrow transplantation in major histocompatibility complex class II deficiency: a single center study of 19 patients. Blood 85:580–587PubMedGoogle Scholar
  257. 258.
    Klein C, Nguyen D, Liu CH et al (2003) Gene therapy for Wiskott-Aldrich syndrome: rescue of T-cell signaling and amelioration of colitis upon transplantation of retrovirally transduced hematopoietic stem cells in mice. Blood 101:2159–2166PubMedCrossRefGoogle Scholar
  258. 259.
    Knutsen AP, Steffen M, Wassmer K, Wall DA (2003) Umbilical cord blood transplantation in Wiskott Aldrich syndrome. J Pediatr 142:519–523PubMedCrossRefGoogle Scholar
  259. 260.
    Knutsen AP, Wall DA (1999) Kinetics of T-cell development of umbilical cord blood transplantation in severe T-cell immunodeficiency disorders. J Allergy Clin Immunol 103:823–832PubMedCrossRefGoogle Scholar
  260. 261.
    Kodama S, Homatsu K, Okomura Y, Oshimura M (1992) Suppression of x-ray-induced chromosome aberrations in ataxia-telangiectasia cells by introduction of a normal human chromosome 11. Mutat Res 293:31–37PubMedGoogle Scholar
  261. 262.
    Kohn DB, Weinberg KI. Nolta JA et al (1995) Engraftment of gene-modified umbilical cord blood cells in neonates with adenosine deaminase deficiency. Nature Med 1:1017–1023PubMedCrossRefGoogle Scholar
  262. 263.
    Kohn DB, Weinberg KI, Parkman R (2000) Gene therapy for T-cell immunodeficiencies. Immunol Allergy Clin North Am 20:221–235CrossRefGoogle Scholar
  263. 264.
    Kojis TL, Gatti RA, Sparkes RS (1992) The cytogenetics of ataxia-telangiectasia. Cancer Genet Cytogenet 56:143–156CrossRefGoogle Scholar
  264. 265.
    Kolluri R, Fuchs Tolias K, Carpenter CL, Rosen FS, Kirchhausen T (1996) Direct interaction of the Wiskott-Aldrich syndrome protein with the GTPase Cdc42. Proc Natl Acad Sci U S A 93:5615–5618PubMedCrossRefGoogle Scholar
  265. 266.
    Korthauer U, Graf D, Mages HW et al (1993) Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM. Nature 361:539–541PubMedCrossRefGoogle Scholar
  266. 267.
    Kornfeld SJ, Good RA, Litman GW (1994) Atypical Xlinked agammaglobulinemia (letter). N Engl J Med 331: 949–950PubMedCrossRefGoogle Scholar
  267. 268.
    Kornfeld SJ, Kratz J, Diamond F, Day NK, Good RA (1995) Shwachman-Diamond syndrome associated with hypogammaglobulinemia and growth hormone deficiency. J Allergy Clin Immunol 96:247–250PubMedCrossRefGoogle Scholar
  268. 269.
    Kornfeld SJ, Kratz J, Haire RN, Litman GW, Good RA (1995) X-linked agammaglobulinemia presenting as transient hypogammaglobulinaemia of infancy. J Allergy Clin Immunol 95:915–917PubMedCrossRefGoogle Scholar
  269. 270.
    Kowalczyk D, Pituch-Noworolska A (1995) Incidence of humoral immunodeficiency in children with recurrent infections. Przegl Lek 52:492–495PubMedGoogle Scholar
  270. 271.
    Kundsin RB, Delollis RD (1996) Ureaplasma urealyticum isolations from young children with respiratory problems. Proc 3rd Intern Conf on the Macrolides, Azalides and Streptogamines. Lisbon, January 24–26, 1996; abstract 2–18Google Scholar
  271. 272.
    Kung C, Pingel JT, Heikinheimo M et al (2000) Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease. Nat Med 6:343–345PubMedCrossRefGoogle Scholar
  272. 273.
    Kvaerner KJ, Nafstad P, Jaakkola JJ (2000) Upper respiratory morbidity in preschool children: a cross-sectional study. Arch Otolaryngol HeadNeck Surg 126:1201–1206Google Scholar
  273. 274.
    Kwan S-P, Lehner T, Hagemann T et al (1991) Localization of the gene for the Wiskott-Aldrich syndrome between two flanking markers TIMP and DXS255 on Xp 11.22-11.3. Genomics 10:29–33PubMedCrossRefGoogle Scholar
  274. 275.
    Kwan S-P, Hagemann T, Radtke BE, Blaese RM, Rosen FS (1995) Identification of mutation in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940 adjacent to the disease gene. Proc Natl Acad Sci U S A 92:4706–4710PubMedCrossRefGoogle Scholar
  275. 276.
    Kwast O, Ignatowicz R (1990) Progressive peripheral neuron degeneration in ataxia-telangiectasia: an electrophysiological study in children. Dev Med Child Neurol 32: 800–807PubMedCrossRefGoogle Scholar
  276. 277.
    Lanfranchi A, Verardi R, Tettoni Ket al (2000) Haploidentical peripheral blood and marrow stem cell transplantation in nine cases of primary immunodeficiency. Haematologica 85[Suppl 11]:41–46PubMedGoogle Scholar
  277. 278.
    Lau Y-L (1991) X-linked immunodeficiencies involving the lymphoid system. Pediatr Asthma Allerg Immunol 5:259–272Google Scholar
  278. 279.
    Lavin MF, Khanna KK, Beamish H, Teale B, Hobson K, Watters D (1994) Defect in radiation signal transduction in ataxia-telangiectasia. Int J Radiat Biol 6:S151–S156CrossRefGoogle Scholar
  279. 280.
    Le Deist F, Blanche S, Keable H et al (1989) Successful HLA nonidentical bone marrow transplantation in three patients with the leukocyte adhesion deficiency. Blood 74:512–516PubMedGoogle Scholar
  280. 281.
    Le Deist F, Emile J-F, Rieux-Laucat F et al (1996) Clinical, immunological, and pathological consequences of Fasdeficient conditions. Lancet 348:719–723PubMedCrossRefGoogle Scholar
  281. 282.
    Lefranc M-P, Hammarström L, Smith CIE, Lefranc G (1991) Gene deletion in the human immunoglobulin heavy chain constant region locus: molecular and immunological analysis. Immunodef Rev 2:265–261PubMedGoogle Scholar
  282. 283.
    Leibl H, Liszka K, Bernatowska E, Mannhalter JW, Eibl MM (1991) Serum IgG subclass concentration in patients with undue susceptibility to infections. EOS 11:40–42Google Scholar
  283. 284.
    Lekstrom-Himes JA, Dorman SE, Kopar P, Holland SM, Gallin JI (1999) Neutrophil-specific granule deficiency results from a novel mutation with loss of function of the transcription factor CCAAT/enhancer binding protein epsilon. J Exp Med 189:1847–1852PubMedCrossRefGoogle Scholar
  284. 285.
    Lekstrom-Himes JA, Gallin JI (2000) Immunodeficiency diseases caused by defects in phagocytes. N Engl J Med 343:1703–1714PubMedCrossRefGoogle Scholar
  285. 286.
    Leone V, Tommasini A, Andolina M et al (2002) Elective bone marrow transplantation in a child with X-linked hyper-IgM syndrome presenting with acute respiratory distress syndrome. Bone Marrow Transplant 30:49–52PubMedCrossRefGoogle Scholar
  286. 287.
    Leung DYM, Geha RS (1988) Clinical and immunologic aspects of the hyperimmunoglobulin E syndrome. Hematol Oncol Clin North Am 2:81–100PubMedGoogle Scholar
  287. 288.
    Leung TF, Chik KW, Li CK, Shing M, Yuen P (1999) Bone marrow transplantation for chronic granulomatous disease: long-term follow-up and review of the literature. Bone Marrow Transplant 24:567–570PubMedCrossRefGoogle Scholar
  288. 289.
    Leung TF, Li CK, Kwok KL, Chik KW, Shing MM, Yuen PM (2001) Severe chronic neutropenia in Chinese children in Hong Kong. J Paediatr Child Health 37:137–141PubMedCrossRefGoogle Scholar
  289. 290.
    Levy J, Espanol-Boren T, Thomas C et al (1997) Clinical spectrum of X-linked hyper-IgM syndrome. J Pediatr 131:47–54PubMedCrossRefGoogle Scholar
  290. 291.
    Lichtenauer-Kaligis EG, de Boer T, Verreck FA et al (2003) Severe Mycobacterium bovis BCG infections in a large series of novel IL-12 receptor betal deficient patients and evidence for the existence of partial IL-12 receptor betal deficiency. Eur J Immunol 33:59–69PubMedCrossRefGoogle Scholar
  291. 292.
    Lim DL, Thong BY, Ho SY et al (2003) Primary immunodeficiency diseases in Singapore — the last 11 years. Singapore Med J 44:579–586PubMedGoogle Scholar
  292. 293.
    Lindemann MJ, Benczik M, Gaffen SL (2003) Anti-apoptotic signaling by the interleukin-2 receptor reveals a function for cytoplasmic tyrosine residues within the common gamma (gamma c) receptor subunit. J Biol Chem 278:10239–10249PubMedCrossRefGoogle Scholar
  293. 294.
    Liu X, Adams A, Wildt KF, Aronow B, Feigenbaum L, Bosselut R (2003) Restricting Zap70 expression to CD4+CD8+ thymocytes reveals a T cell receptor-dependent proofreading mechanism controlling the completion of positive selection. J Exp Med 197:363–373PubMedCrossRefGoogle Scholar
  294. 295.
    Lodewyck HS, Van Mierop MD, Kutsche LM (1986) Cardiovascular anomalies in DiGeorge syndrome and importance of neural crest as a possible pathogenetic factor. Am J Cardiol 58:133–137CrossRefGoogle Scholar
  295. 296.
    Loh RKS, Thong YH, Harth SC, Ferrante A (1991) Reduced levels of IgG subclasses and IgA in young children with asthma. Pediatr Allergy Immunol 2:25–29CrossRefGoogle Scholar
  296. 297.
    Lokaj J, Litzman J, Kuklinek P (1995) Incidence of primary immunodeficiencies in a population of south Moravia, Czechoslovakia. Adv Exp Med Biol 371B:709–712PubMedGoogle Scholar
  297. 298.
    Lubitz PA, Dower N, Krol AL (2001) Cyclic neutropenia: an unusual disorder of granulopoiesis effectively treated with recombinant granulocyte colony-stimulating factor. Pediatr Dermatol 18:426–432PubMedCrossRefGoogle Scholar
  298. 299.
    Luzi G, Businco L, Aiuti F (1983) Primary immunodeficiency syndrome in Italy: a report of the national register in children and adults. J Clin Immunol 3:316–320PubMedCrossRefGoogle Scholar
  299. 300.
    Lyon MF (1972) X-chromosome inactivation and developmental patterns in mammals. Biol Rev Camb Phil Soc 47:1–35CrossRefGoogle Scholar
  300. 301.
    Macchi P, Villa A, Giliani S et al (1995) Mutations of Jak-3 gene in patients with autosomal severe combined immunodeficiency. Nature 377:65–68PubMedCrossRefGoogle Scholar
  301. 302.
    Manis J, Schwartz RS (1996) Agammaglobulinemia and insights into B-cell differentiation. N Engl J Med 335: 1523–1525PubMedCrossRefGoogle Scholar
  302. 303.
    Marchetti C, Patriarca P, Solero GP, Baralle FE, Romano M (2004) Genetic characterization of myeloperoxidase deficiency in Italy. Hum Mutat 23:496–505PubMedCrossRefGoogle Scholar
  303. 304.
    Markert ML (1991) Purine nucleoside phosphorylase deficiency. Immunodef Rev 3:45–81PubMedGoogle Scholar
  304. 305.
    Markert ML, Hummell DS, Rosenblatt HM et al (1998) Complete DiGeorge syndrome: persistence of profound immunodeficiency. J Pediatr 132:15–21PubMedCrossRefGoogle Scholar
  305. 306.
    Markert ML, Boeck A, Hale LP, Kloster AL, McLaughlin TM, Batchvarova MN et al (1999) Transplantation of thymus tissue in complete DiGeorge syndrome. N Engl J Med 341:1180–1189PubMedCrossRefGoogle Scholar
  306. 307.
    Markert ML, Sarzotti M, Ozaki DA et al (2003) Thymus transplantation in complete DiGeorge syndrome: immunologic and safety evaluations in 12 patients. Blood 102:1121–1130PubMedCrossRefGoogle Scholar
  307. 308.
    Markert ML, Alexieff MJ, Li J et al (2004) Complete DiGeorge syndrome: development of rash, lymphadenopathy, and oligoclonal T cells in 5 cases. J Allergy Clin Immunol 113:734–741PubMedCrossRefGoogle Scholar
  308. 309.
    Markert ML, Alexieff MJ, Li J et al (2004) Postnatal thymus transplantation with immunosuppression as treatment for DiGeorge syndrome. Blood Apr 20 [Epub ahead of print]Google Scholar
  309. 310.
    Martinez di Montemuros F, Dotti C, Tavazzi D, Fiorelli G, Cappellini MD (1997) Molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) variants in Italy. Haematologica 82:440–445PubMedGoogle Scholar
  310. 311.
    Masternak K, Barras E, Zufferey M et al (1998) A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients. Nat Genet 20:273–277PubMedCrossRefGoogle Scholar
  311. 312.
    Matesic LE, Yip R, Reuss AE et al (2001) Mutations in M1ph, encoding a member of the Rab effector family, cause the melanosome transport defects observed in leaden mice. Proc Natl Acad Sci U S A 98:10238–10243PubMedCrossRefGoogle Scholar
  312. 313.
    Matsumoto S, Sakiyama Y, Ariga T, Gallagher R, Taguchi Y (1992) Progress in primary immunodeficiency. Immunol Today 13:4–5PubMedCrossRefGoogle Scholar
  313. 314.
    Matheux F, Ikinciogullari A, Zapata DA et al (2002) Direct genetic correction as a new method for diagnosis and molecular characterization of MHC class II deficiency. Mol Ther 6:824–829PubMedCrossRefGoogle Scholar
  314. 315.
    McGeady SJ (1987) Transient hypogammaglobulinemia of infancy: need to reconsider name and definition. J Pediatr 110:47–50PubMedCrossRefGoogle Scholar
  315. 316.
    Meffre E, Le Deist F, de Saint-Basile G et al (1996) A human non-XLA immunodeficiency disease characterized by blockage of B cell development at an early proB stage. J Clin Invest 98:1519–1526PubMedGoogle Scholar
  316. 317.
    Meissner C, Reimer CB, Black C et al (1990) Interpretation of IgG subclass values: a comparison of two assays. J Pediatr 117:726–731PubMedCrossRefGoogle Scholar
  317. 318.
    Melamed J, Cohen A, Roifman CM (1994) Expansion of CD3+, CD4-, CD8- T cell population expression high levels of IL-5 in Omenn’s syndrome. Clin Exp Immunol 95:14–21PubMedCrossRefGoogle Scholar
  318. 319.
    Menasche G, Pastural E, Feldmann J et al (2000) Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. Nat Genet 25:173–176PubMedCrossRefGoogle Scholar
  319. 320.
    Meyn MS (1993) High spontaneous intrachromosomal recombination rates in ataxia-telangiectasia. Science 260: 1327–1330PubMedCrossRefGoogle Scholar
  320. 321.
    Milá Llambía J, Etxagibel Galdosa A, Matamoros Fiona N (2001) Registre español de inmunodeficiencias primarias (REDIP). Allergol Immunopathol 29:122–125Google Scholar
  321. 322.
    Mims CA (1986) Interactions of viruses with the immune system. Clin Exp Immunol 66:1–16PubMedGoogle Scholar
  322. 323.
    Misfeldt M (1993) Microbial antigens and superantigens. Clinical and immunological significance. EOS 13:150–154Google Scholar
  323. 324.
    Moin M, Aghamohammadi A, Farhoudi A et al (2004) Xlinked agammaglobulinemia: a survey of 33 Iranian patients. Immunol Invest 33:81–93PubMedCrossRefGoogle Scholar
  324. 325.
    Moline TJ, Perrot JY, Penninger J, et al (1998) Differential requirement for p56lck in fetal and adult thyreopoiesis. J Immunol 160:3828–3834Google Scholar
  325. 326.
    Monto AS, Sullivan KM (1993) Acute respiratory illness in the community: frequency of illness and the agents involved. Epidemiol Infect 110:145–160PubMedCrossRefGoogle Scholar
  326. 327.
    Morell A, Muehlheim E, Schaad U, Skvaril F, Rossi E (1986) Susceptibility to infections in children with selective IgA-and IgA-IgG subclass deficiency. Eur J Pediatr 145: 199–203PubMedCrossRefGoogle Scholar
  327. 328.
    Morgan BP, Walport MJ (1991) Complement deficiency and disease. Immunol Today 12:301–306PubMedCrossRefGoogle Scholar
  328. 329.
    Morinobu A, Gadina M, Strober W et al (2002) STAT4 serine phosphorylation is critical for IL-12-induced IFN-gamma production but not for cell proliferation. Proc Natl Acad Sci U S A 99:12281–12286PubMedCrossRefGoogle Scholar
  329. 330.
    Morra M, Silander O, Calpe S et al (2001) Alterations of the X-linked lymphoproliferative disease gene SH2D1A in common variable immunodeficiency syndrome. Blood 98:1321–1325PubMedCrossRefGoogle Scholar
  330. 331.
    Morwood K, Bourne H, Philpot R, Gold M, Gillis D, Benson EM (2004) Phenotypic variability: clinical presentation between the 6th year and the 60th year in a family with X-linked agammaglobulinemia (letter). J Allergy Clin Immunol 113:783–765PubMedCrossRefGoogle Scholar
  331. 332.
    Moshous D, Callebaut I, de Chasseval R et al (2001) Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency. Cell 105:177–186PubMedCrossRefGoogle Scholar
  332. 333.
    Moss RB, Carmack MA, Esrig S (1992) Deficiency of IgG4 in children: association of isolated IgG4 deficiency with recurrent respiratory tract infection. J Pediatr 120:16–21PubMedCrossRefGoogle Scholar
  333. 334.
    Mottonen M, Lanning M, Baumann P, Saarinen-Pihkala UM (2003) Chédiak-Higashi syndrome: four cases from Northern Finland. Acta Paediatr 92:1047–1051PubMedCrossRefGoogle Scholar
  334. 335.
    Mouy R, Fischer A, Vilmer E, Seger R, Griscelli C (1989) Incidence, severity, and prevention of infections in chronic granulomatous disease. J Pediatr 114:555–560PubMedCrossRefGoogle Scholar
  335. 336.
    Mouy R, Veber F, Blanche S et al (1994) Long-term itraconazole prophylaxis against Aspergillus infections in thirty-two patients with chronic granulomatous disease. J Pediatr 125:998–1003PubMedCrossRefGoogle Scholar
  336. 337.
    Mouy R, Ropert JC, Donadieu J et al (1995) Chronic septic granulomatosis revealed by neonatal pulmonary aspergillosis. Arch Pédiatr 2:861–864PubMedCrossRefGoogle Scholar
  337. 338.
    Myers LA, Patel DD, Puck JM, Buckley RH (2002) Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival. Blood 99:872–878PubMedCrossRefGoogle Scholar
  338. 339.
    Nagata M, Hara T, Aoki T et al (1989) Inherited deficiency of ninth component of complement: an increased risk of meningococcal meningitis. J Pediatr 114:260–264PubMedCrossRefGoogle Scholar
  339. 340.
    Nath I (1996) Forward to the past. Lancet 348[Suppl II]:11CrossRefGoogle Scholar
  340. 341.
    National Human Genome Research Institute (2003) X-linked SCID mutation database. Updated March 19, 2003Google Scholar
  341. 342.
    Negishi I, Motoyama N, Nakayama K et al (1995) Essential role for ZAP-70 in both positive and negative selection of thymocytes. Nature 376:435–438PubMedCrossRefGoogle Scholar
  342. 343.
    Nakamura K, Kobayashi M, Konishi N et al (2000) Abnormalities of primitive myeloid progenitor cells expressing granulocyte colony-stimulating factor receptor in patients with severe congenital neutropenia. Blood 96: 4366–4369PubMedGoogle Scholar
  343. 344.
    Nermes M, Fälth-Magnusson K, Savolainen J, Viander M, Björkstén B (1996) A comparison of the development of antibody responses to the polysaccharide antigen (Candida albicans mannan) in atopic and healthy infants and children. Clin Exp Allergy 26:164–170PubMedCrossRefGoogle Scholar
  344. 345.
    Nichols KE (2000) X-linked lymphoproliferative disease: genetics and biochemistry. Rev Immunogenet 2:256–266PubMedGoogle Scholar
  345. 346.
    Noelle RJ, Roy M, Shepherd DM, Stamenkovic I, Ledbetter JA, Aruffo A (1992) A 39-kDa protein on activated helper T cells binds CD40 and transduces the signal for cognate activation of B cells. Proc Natl Acad Sci USA 89: 6550–6554PubMedCrossRefGoogle Scholar
  346. 347.
    Noguchi M, Yi H, Rosenblatt HM et al (1993) Interleukin-2 receptor g chain mutation results in X-linked severe combined immunodeficiency in humans. Cell 73:147–157PubMedCrossRefGoogle Scholar
  347. 348.
    Nomura K, Kanegane H, Karasuyama H et al (2000) Genetic defect in human X-linked agammaglobulinemia impedes a maturational evolution of pro-B cells into a later stage of pre-B cells in the B-cell differentiation pathway. Blood 96:610–617PubMedGoogle Scholar
  348. 349.
    Noordzij JG, de Bruin-Versteeg S, Comans-Bitter WM et al (2002) Composition of precursor B-cell compartment in bone marrow from patients with X-linked agammaglobulinemia compared with healthy children. Pediatr Res 51: 159–168PubMedCrossRefGoogle Scholar
  349. 350.
    Noordzij JG, Verkaik NS, van der Burg M et al (2003) Radiosensitive SCID patients with Artemis gene mutations show a complete B-cell differentiation arrest at the pre-B-cell receptor checkpoint in bone marrow. Blood 101: 1446–1452PubMedCrossRefGoogle Scholar
  350. 351.
    Notarangelo L, Casanova JL, Fischer A et al (2004) Primary immunodeficiency diseases: an update. J Allergy Clin Immunol 114:677–687PubMedCrossRefGoogle Scholar
  351. 352.
    Nunez RM (1988) Primary immunodeficiency in Colombian children. Allergol Immunopathol (Madr) 16:273–275Google Scholar
  352. 353.
    Nydahl-Persson K, Petterson A, Fasth A (1995) A prospective, double-blind, placebo-controlled trial of i.v. immunoglobulin and trimethoprim-sulfamethoxazole in children with recurrent respiratory tract infections. Acta Paediatr 84:1007–1009PubMedCrossRefGoogle Scholar
  353. 354.
    Oakes SA, Candotti F, Johnston JA et al (1996) Signaling via IL-2 and IL-4 in JAK3-deficient severe combined immunodeficiency lymphocytes: JAK3-dependent and independent pathways. Immunity 5:605–615PubMedCrossRefGoogle Scholar
  354. 355.
    Ochs HD, Stiehm ER, Winkelstein J (2004) Antibody deficiencies. In: Stiehm ER, Ochs HD, Winkelstein JA (eds) Immunologic disorders in infants and children, 5th edn. Elsevier, Saunders, Philadelphia, pp 356–426Google Scholar
  355. 356.
    Ohashi YY, Kameoka Y, Persad AS et al (2004) Novel missense mutation found in a Japanese patient with myeloperoxidase deficiency. Gene 327:195–200PubMedCrossRefGoogle Scholar
  356. 357.
    Okazaki IM, Kinoshita K, Muramatsu M, Yoshikawa K, Honjo T (2002) The AID enzyme induce class switch recombination in fibroblasts. Nature 416:340–345PubMedCrossRefGoogle Scholar
  357. 358.
    Olerup O, Smith CIE, Hammarström L (1990) Different amino acids at position 57 of the HLA-DQ b chain associated with susceptibility and resistance to IgA deficiency. Nature 347:289–290PubMedCrossRefGoogle Scholar
  358. 359.
    Oliva A, Quinti I, Scala E et al (1995) Immunodeficiency with hyperimmunoglobulinemia M in two female patients is not associated with abnormalities of CD40 or CD40 ligand expression. J Allergy Clin Immunol 96:403–410PubMedCrossRefGoogle Scholar
  359. 360.
    O’Marcaigh AS, DeSantes K, Hu D et al (2001) Bone marrow transplantation for T-Bsevere combined immunodeficiency disease in Athabascan-speaking native Americans. Bone Marrow Transplant 27:703–709PubMedCrossRefGoogle Scholar
  360. 361.
    Orange JS, Jain A, Ballas ZK, Schneider LC, Geha RS, Bonilla FA (2004) The presentation and natural history of immunodeficiency caused by nuclear factor kB essential modulator mutation. J Allergy Clin Immunol 113:725–733PubMedCrossRefGoogle Scholar
  361. 362.
    O’Reilly RJ, Friedrich W, Small TN (1999) Hematopoietic cell transplantation for immunodeficiency disorders. In: Thomas ED, Blume KG, Forman SJ (eds) Hematopoietic cell transplantation, 2nd edn. Blackwell Science, Maiden, pp 1154–1172Google Scholar
  362. 363.
    Overturf GD (2003) Indications for the immunological evaluation of patients with meningitis. Clin Infect Dis 36:189–194PubMedCrossRefGoogle Scholar
  363. 364.
    Oxelius V A, Berkel AI, Hanson LÅ (1982) IgG2 deficiency in ataxia-telangiectasia. N Engl J Med 306:515–517PubMedCrossRefGoogle Scholar
  364. 365.
    Ozaki K, Spolski R, Feng CG et al (2002) A critical role for IL-21 in regulating immunoglobulin production. Science 298:1630–1634PubMedCrossRefGoogle Scholar
  365. 366.
    Ozsahin H, Le Deist F, Benkerrou M et al (1996) Bone marrow transplantation in 26 patients with Wiskott-Aldrich syndrome from a single center. J Pediatr 129:238–244PubMedCrossRefGoogle Scholar
  366. 367.
    Paganelli R, Quinti I, Scala E et al (1991) Nuovi aspetti diagnostici e patogenetici dei difetti primitivi dell’immunità umorale. G Ital Allergol Immunol Clin 1:49–61Google Scholar
  367. 368.
    Paganelli R, Scala E, Capobianchi MR et al (1991) Selective deficiency of interferon-gamma production in the hyperIgE syndrome: relationship to in vitro IgE synthesis. Clin Exp Immunol 84:28–33PubMedGoogle Scholar
  368. 369.
    Palmer SE, Stephens K, Dale DC (1996) Genetics, phenotype, and natural history of autosomal dominant cyclic hematopoiesis. Am J Med Genet 66:413–422PubMedCrossRefGoogle Scholar
  369. 370.
    Parolini O, Rohrer J, Conley ME (1994) Atypical X-linked agammaglobulinemia (letter). N Engl J Med 331:950Google Scholar
  370. 371.
    Pasic S, Minic A, Minic P et al (2003) Long-term followup and prognosis of chronic granulomatous disease in Yugoslavia: is there a role for early bone marrow transplantation? J Clin Immunol 23:55–61PubMedCrossRefGoogle Scholar
  371. 372.
    Pastural E, Barrat FJ, Dufoureq-Lagelouse R et al (1997) Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene. Nature Genet 16:289–292PubMedCrossRefGoogle Scholar
  372. 373.
    Patel DD, Goodwin ME, Parrott RE, Curtis KM, Haynes BF, Buckley RH (2000) Thymic function after hemapoietic stem cell transplantation for the treatment of severe combined immunodeficiency. N Engl J Med 342:1325–1332PubMedCrossRefGoogle Scholar
  373. 374.
    Pavone F, Cuffari R, Falcone A, Pavone M (1988) Il bambino che si ammala spesso: profilo immunologico-clinico. Aggiorn Pediatr 39:277–292Google Scholar
  374. 375.
    Peake JE, McCrossin RB, Byrne G, Shepherd R (1996) X-linked immune dysregulation, neonatal insulin dependent diabetes, and intractable diarrhoea. Arch Dis Child 74: F195–F199Google Scholar
  375. 376.
    Picard C, Casanova JL (2003) New hereditary immunodeficiencies and genetic predisposition to infective diseases in children. Arch Pédiatr 10[Suppl S4]:S4513–S4516Google Scholar
  376. 377.
    Picard C, Fieschi C, Altare F et al (2002) Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds. Am J Hum Genet 70:336–348PubMedCrossRefGoogle Scholar
  377. 378.
    Pickering MC, Walport MJ (2000) Links between complement abnormalities and systemic lupus erythematosus. Rheumatology (Oxford) 39:133–141CrossRefGoogle Scholar
  378. 379.
    Pietrucha B, Kmiec T, Mikoluc B et al (2004) Ataxia telangiectasia syndrome: clinical picture and immunological abnormalities. Neurol Neurochir Pol 38[Suppl 1]: S1–S7PubMedGoogle Scholar
  379. 380.
    Pignata C, Gaetaniello L, Masci AM, et al (2001) Human equivalent of the mouse Nude/SCID phenotype: longterm evaluation of immunologic reconstitution after bone marrow transplantation. Blood 97:880–885PubMedCrossRefGoogle Scholar
  380. 381.
    Pinkerton CR, Hann I, Weston CL et al (2002) Immunodeficiency-related lymphoproliferative disorders: prospective data from the United Kingdom Children’s Cancer Study Group Registry. Br J Haematol 118:456–461PubMedCrossRefGoogle Scholar
  381. 382.
    Pitkaranta A, Nokso-Koivisto J, Jantti V, Takala A, Kilpi T, Hovi T (1999) Lowered yields of virus-induced interferon production in leukocyte cultures and risk of recurrent respiratory infections in children. J Clin Virol 14:199–205PubMedCrossRefGoogle Scholar
  382. 383.
    Plebani A, Monafo V, Ugazio AG, Burgio GR (1986) Clinical heterogeneity and reversibility of selective immunoglobulin A deficiency in 80 children. Lancet i:829–832CrossRefGoogle Scholar
  383. 384.
    Plebani A, Carbonara AO, Bottaro A et al (1993) Two siblings with deficiency of IgA1, IgG2, IgG4 and IgE due to deletion of immunoglobulin heavy chain constant region genes. Year Immunol 7:231–235PubMedGoogle Scholar
  384. 385.
    Plebani A, Ugazio AG, Meini A et al (1993) Extensive deletion of immunoglobulin heavy chain constant region genes in the absence of recurrent infections: when is IgG subclass deficiency clinically relevant? Clin Immunol Immunopathol 48:46–50CrossRefGoogle Scholar
  385. 386.
    Porta F, Lanfranchi A, Verardi R et al (1999) Il trapianto prenatale e postnatale di cellule staminali emopoietiche in bambini affetti da immunodeficienza primitiva. Ann Ist Super Sanita 35:315–328PubMedGoogle Scholar
  386. 387.
    Pressler T, Mansa B, Pedersen SS, Espersen F, Høiby N, Koch C (1994) Methodologie problems in establishing normal values for IgG subclass concentrations in a pediatrie population: comparison of radial immunodiffusion and ELISA methods. Allergy 49:772–777PubMedCrossRefGoogle Scholar
  387. 388.
    Proust A, Guillet B, Pellier I et al (2005) Recurrent V75M mutation within the Wiskott-Aldrich syndrome protein: description of a homozygous female patient. Eur J Haenatik 75:54–59CrossRefGoogle Scholar
  388. 389.
    Puck JM (1993) Prenatal diagnosis and genetic analysis of X-linked immunodeficiency disorders. Pediatr Res 33[Suppl 1]:S29–S33PubMedCrossRefGoogle Scholar
  389. 390.
    Puck JM, Deschenes SM, Porter JC et al (1993) The interleukin-2 receptor gamma chain maps to Xql3.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1. Hum Mol Genet 2:1099–1104PubMedCrossRefGoogle Scholar
  390. 391.
    Puel A, Ziegler SF, Buckley RH, Leonard WJ (1998) Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency. Nat Genet 20:394–397PubMedCrossRefGoogle Scholar
  391. 392.
    Quezada A, Norambuena X, Bravo A, Castro-Rodriguez JA (2001) Recurrent pneumonia as warning manifestation for suspecting primary immunodeficiencies in children. J Investig Allergol Clin Immunol 11:295–299PubMedGoogle Scholar
  392. 393.
    Quie PG, Mills EL, Roberts RL, Noya FJD (1996) Disorders of the polymorphonuclear phagocytic system. In: Stiehm ER (ed) Immunologic disorders in infants and children, 4th edn. WB Saunders, Philadelphia, pp 443–468Google Scholar
  393. 394.
    Ragno V, Barbieri C, Paganelli R, Businco L (1991) Difetti dell’immunità cellulare e immunodeficienze combinate. G Ital Allergol Immunol Clin 1:35–48Google Scholar
  394. 395.
    Rajewsky K (1996) Clonal selection and learning in the antibody system. Nature 381:751–758PubMedCrossRefGoogle Scholar
  395. 396.
    Rao K, Amrolia PJ, Jones A et al (2005) Improved survival after unrelated donor bone marrow transplantation in children with primary immunodeficiency using a reduced-intensity conditioning regimen. Blood 105:879–885PubMedCrossRefGoogle Scholar
  396. 397.
    Rath S, Jain V, Marwaha RK, Trehan A, Rajesh LS, Kumar V (2004) Griscelli syndrome. Indian J Pediatr 71:173–175PubMedGoogle Scholar
  397. 398.
    Rezaei N, Farhoudi A, Ramyar A et al (2005) Congenital neutropenia and primary immunodeficiency disorders: a survey of 26 Iranian patients. J Pediatr Hematol Oncol 27:351–356PubMedCrossRefGoogle Scholar
  398. 399.
    Reid TE, Shearer WT (1994) Recurrent sinusitis and immunodeficiency. Immunol Allergy Clin North Am 14: 143–170Google Scholar
  399. 400.
    Reith W, Satola S, Herrero Sanchez C et al (1988) Congenital immunodeficiency with a regulatory defect in MHC class II gene expression lacks a specific HLA-DR promoter binding protein, RF-X. Cell 53:897–906PubMedCrossRefGoogle Scholar
  400. 401.
    Reith W, Steimle V, Mach B (1995) Molecular defects in the bare lymphocyte syndrome and regulation of MHC class II genes. Immunol Today 16:539–546PubMedCrossRefGoogle Scholar
  401. 402.
    Remold-O’Donnell E, Rosen FS (1990) Sialophorin (CD43) and the Wiskott-Aldrich syndrome. Immunodef Rev 2:151–174Google Scholar
  402. 403.
    Remus N, Reichenbach J, Picard C et al (2001) Impaired interferon gamma-mediated immunity and susceptibility to mycobacterial infection in childhood. Pediatr Res 50: 8–13PubMedCrossRefGoogle Scholar
  403. 404.
    Renner ED, Puck JM, Holland SM et al (2004) Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity. J Pediatr 144:93–99PubMedCrossRefGoogle Scholar
  404. 405.
    Reuter U, Roesler J, Thiede C et al (2002) Correction of complete interferon-gamma receptor 1 deficiency by bone marrow transplantation. Blood 100:4234–4235PubMedCrossRefGoogle Scholar
  405. 406.
    Revy P, Buck D, le Deist F, de Villartay JP (2005) The repair of DNA damages/modifications during the maturation of the immune system: lessons from human primary immunodeficiency disorders and animal models. Adv Immunol 87:237–295PubMedCrossRefGoogle Scholar
  406. 407.
    Revy P, Muto T, Levy Y et al (2000) Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the hyper-IgM syndrome. Cell 102: 565–575PubMedCrossRefGoogle Scholar
  407. 408.
    Roberts JL, Lengi A, Brown SM et al (2004) Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation. Blood 103:2009–2018PubMedCrossRefGoogle Scholar
  408. 409.
    Robinson GR, Canto RG, Reynolds HY (1993) Host defense mechanisms in respiratory infection. Immunol Allergy Clin North Am 13:1–25Google Scholar
  409. 410.
    Roifman CM, Zhang J, Chitayat D, Sharfe N (2000) A partial deficiency of interleukin-7R is sufficient to abrogate T-cell development and cause severe combined immunodeficiency Blood 96:2803–2807PubMedGoogle Scholar
  410. 411.
    Rolink A, Melchers F, Andersson J (1996) The SCID but not the Rag-2 gene product is required for Su-Se heavy chain class switching. Immunity 5:319–330PubMedCrossRefGoogle Scholar
  411. 412.
    Roos D, Curnutte JT (1999) Chronic granulomatous disease. In: Ochs HD, Smith CIE, Puck JM (eds) Primary immunodeficiency diseases: a molecular and genetic approach. Oxford University Press, New York, pp 353–374Google Scholar
  412. 413.
    Rosen FS, Cooper MD, Wedgwood RJP (1995) The primary immunodeficiencies. N Engl J Med 333:431–440PubMedCrossRefGoogle Scholar
  413. 414.
    Rosen FS, Eibl M, Roifman C et al (1999) Primary immunodeficiency diseases: Report of an IUIS Committee. Clin Exp Immunol 1999; 118[Suppl 1]:1–28Google Scholar
  414. 415.
    Rosenstein N, Phillips WR, Gerber MA, Marcy SM, Schwartz B, Dowell SF (1998) The common cold — principles of judicious use of antimicrobial agents. Pediatrics 101:181–184Google Scholar
  415. 416.
    Rosenzweig SD, Holland SM (2004) Phagocyte immunodeficiencies and their infections. J Allergy Clin Immunol 113:620–626PubMedCrossRefGoogle Scholar
  416. 417.
    Rosenzweig S, Dorman SE, Roesler J, Palacios J, Zelazko M, Holland SM (2002) 561del4 defines a novel small deletion hotspot in the interferon-gamma receptor 1 chain. Clin Immunol 102:25–27PubMedCrossRefGoogle Scholar
  417. 418.
    Rossi GA, Peri C, Raynal ME et al (2003) Naturally occurring immune response against bacteria commonly involved in upper respiratory tract infections: analysis of the antigen-specific salivary IgA levels. Immunol Lett 86:85–91PubMedCrossRefGoogle Scholar
  418. 419.
    Rossi ME, Marranci S, De Marco A et al (1993) Ridotta funzionalità natural killer in bambini con infezioni respiratorie ricorrenti. Pediatr Med Chir 15:1–4PubMedGoogle Scholar
  419. 420.
    Rossi P, Galli E, Cantani A, Perlini R, Sellitto F, Businco L (1982) A case of hyperimmunoglobulinemia E treated with cow’s milk-and egg-free diet. Ann Allergy 49: 159–164PubMedGoogle Scholar
  420. 421.
    Rota PA, Oberste MS, Monroe SS et al (2003) Characterization of a novel coronavirus associated with severe acute respiratory syndrome. Science 300:1394–1399PubMedCrossRefGoogle Scholar
  421. 422.
    Rother K, Till GO (1988) The complement system. Springer Verlag, Berlin New York HeidelbergGoogle Scholar
  422. 423.
    Rubinstein P, Carrier C, Scaradavou A et al (1998) Outcomes among 562 recipients of placental-blood transplants from unrelated donors. N Engl J Med 339: 1565–1577PubMedCrossRefGoogle Scholar
  423. 424.
    Russell SM, Johnston JA, Noguchi M et al (1994) Interaction of IL-2Rb and γc chains with Jak1 and Jak3: implications for XSCID and SCID. Science 266:1042–1045PubMedCrossRefGoogle Scholar
  424. 425.
    Ryser O, Morell A, Hitzig WH (1988) Primary immunodeficiencies in Switzerland: first report of the national registry in adults and children. J Clin Immunol 8:479–485PubMedCrossRefGoogle Scholar
  425. 426.
    Sacher RA, IVIG Advisory Panel (2001) Intravenous immunoglobulin consensus statement. J Allergy Clin Immunol; 108 [Suppl]: S139–S146PubMedCrossRefGoogle Scholar
  426. 427.
    Saffran DC, Parolini O, Fitch-Hilgenberg ME et al (1994) Brief report: a point mutation in the SH2 domain of Bruton’s tyrosine kinase in atypical X-linked agammaglobulinemia. N Engl J Med 330:1488–1491PubMedCrossRefGoogle Scholar
  427. 428.
    Saleema MA, Arkwright PD, Davies EG, Cant AJ, Veys PA (2000) Clinical course of patients with major histocompatibility complex class II deficiency. Arch Dis Child 83:356–359CrossRefGoogle Scholar
  428. 429.
    Salzer U, Maul-Pavicic A, Cunningham-Rundles C et al (2004) ICOS deficiency in patients with common variable immunodeficiency. Clin Immunol 113:234–240PubMedCrossRefGoogle Scholar
  429. 430.
    Sanders LAM, Rijkers GT, Tenbergen-Meekes A-M, Voorhorst-Ogink MM, Zegers BJM (1995) Immunoglobulin isotype-specific antibody responses to pneumococcal polysaccharide vaccine in patients with recurrent bacterial respiratory tract infections. Pediatr Res 37:812–819PubMedCrossRefGoogle Scholar
  430. 431.
    Sarper N, Ipek IO, Ceran O, Karaman S, Bozaykut A, Inan S (2003) A rare syndrome in the differential diagnosis of hepatosplenomegaly and pancytopenia: report of identical twins with Griscelli disease. Ann Trop Paediatr 23: 69–73PubMedCrossRefGoogle Scholar
  431. 432.
    Sasaki Y, Iseki M, Yamaguchi S et al(1998) Direct evidence of autosomal recessive inheritance of Arg24 to termination codon in purine nucleoside phosphorylase gene in a family with a severe combined immunodeficiency patient. Hum Genet 103:81–85PubMedCrossRefGoogle Scholar
  432. 433.
    Sashara Y, Rachid R, Byrne MJ et al (2002) Mechanism of recruitment of WASP to the immunological synapse and of its activation following TCR ligation. Mol Cell 10: 1269–1281CrossRefGoogle Scholar
  433. 434.
    Saurat J-H, Woodley D, Helfer N (1985) Cutaneous symptoms in primary immunodeficiencies. Curr Probl Dermatol 13:50–91PubMedGoogle Scholar
  434. 435.
    Savitsky K, Bar-Shira A, Giland S et al (1995) A single ataxia-telangiectasia gene with a product similar to PI-3 kinase. Science 268:1749–1753PubMedCrossRefGoogle Scholar
  435. 436.
    Schaad UB, Mutterlein R, Goffin H, BV-Child Study Group (2002) Immunostimulation with OM-85 in children with recurrent infections of the upper respiratory tract: a double-blind, placebo-controlled multicenter study. Chest 122:2042–2049PubMedCrossRefGoogle Scholar
  436. 437.
    Schandene L, Ferster A, Mascari-Lemone F et al (1993) T helper type 2-like cells and therapeutic effect of interferon-gamma in combined immunodeficiency with hypereosinophilia (Omenn’s syndrome). Eur J Immunol 23: 56–60PubMedCrossRefGoogle Scholar
  437. 438.
    Scheimberg I, Hoeger PH, Harper JI, Lake B, Malone M (2001) Omenn’s syndrome: differential diagnosis in infants with erythroderma and immunodeficiency. Pediatr Dev Pathol 4:237–245PubMedCrossRefGoogle Scholar
  438. 439.
    Schiff RI (1992) Indications for the use of intravenous gammaglobulin. Ann Allergy 68:447–451PubMedGoogle Scholar
  439. 440.
    Schneider LC, Berman RS, Shea CR, Perez-Atayde AR, Weinstein H, Geha RS (1990) Bone marrow transplantation (BMT) for the syndrome of pigmentary dilution and lymphohistiocytosis (Griscelli’s syndrome) J Clin Immunol 10:146–153PubMedCrossRefGoogle Scholar
  440. 441.
    Schroeder HW Jr, Schroeder HW 3rd, Sheikh SM (2004) The complex genetics of common variable immunodeficiency. J Investig Med 52:90–103PubMedGoogle Scholar
  441. 442.
    Schubert MS, Moss R (1992) Selective polysaccharide antibody deficiency in familial DiGeorge syndrome. Ann Allergy 69:231–238PubMedGoogle Scholar
  442. 443.
    Schwarz K, Gauss GH, Ludwig L et al (1996) RAG mutations in human B cell-negative SCID. Science 274:97–99PubMedCrossRefGoogle Scholar
  443. 444.
    Schwarz K, Nonoyama S, Peitsch MC et al (1996) WASPbase: a database of WAS-and XLT-causing mutations. Immunol Today 17:496–502PubMedCrossRefGoogle Scholar
  444. 445.
    Schwertz R, Esser E, Seger RA, Rubinstein A, Hauptmann G, Wahn V (1991) Defective activation of the alternative pathway of complement in patients with homozygous C2 deficiency: studies in two unrelated families. Eur J Pediatr 150:647–651PubMedCrossRefGoogle Scholar
  445. 446.
    Seemayer TA, Gross TG, Egeler RM et al (1995) X-linked lymphoproliferative disease: twenty-five years after the discovery. Pediatr Res 38:471–478PubMedCrossRefGoogle Scholar
  446. 447.
    Segal BH, Leto TL, Gallin JI, Malech HL, Holland SM (2000) Genetic, biochemical, and clinical features of chronic granulomatous disease. Medicine (Baltimore) 79:170–200CrossRefGoogle Scholar
  447. 448.
    Seger RA, Gungor T, Belohradsky BH et al (2002) Treatment of chronic granulomatous disease with myeloablative conditioning and an unmodified hemopoietic allograft: a survey of the European experience, 1985–2000. Blood 100:4344–4350PubMedCrossRefGoogle Scholar
  448. 449.
    Sekhar RV, Culbert S, Hoots WK, Klein MJ, Zietz H, Vassilopoulou-Sellin R (2001) Severe osteopenia in a young boy with Kostmann’s congenital neutropenia treated with granulocyte colony-stimulating factor: suggested therapeutic approach. Pediatrics 108:e54PubMedCrossRefGoogle Scholar
  449. 450.
    Shackelford PG, Granoff AM, Madassery JV, Scott MG, Nahm MH (1990) Clinical and immunologic characteristic of healthy children with subnormal serum concentrations of IgG2. Pediatr Res 27:16–21PubMedCrossRefGoogle Scholar
  450. 451.
    Shackelford PG, Granoff AM, Polmar SH et al (1990) Subnormal serum concentrations of IgG2 in children with frequent infections associated with varied patterns of immunologic dysfunction. J Pediatr 116:529–538PubMedCrossRefGoogle Scholar
  451. 452.
    Sharfe N, Dadi H, Shahar M, Roifman C (1997) Human immune disorder arising from mutation of the a chain of the interleukin-2 receptor. Proc Nat Acad Sci U S A 94:3168–3171CrossRefGoogle Scholar
  452. 453.
    Shearer WT, Paul ME, Smith AW, Huston DP (1994) Laboratory assessment of immune deficiency disorders. Immunol Allergy Clin North Am 14:265–299Google Scholar
  453. 454.
    Shield JPH, Strobel S, Levinsky RJ, Morgan G (1992) Immunodeficiency presenting as hypergammaglobulinemia with IgG2 subclass deficiency. Lancet 340:448–450PubMedCrossRefGoogle Scholar
  454. 455.
    Shiohara M, Gombart AF, Sekiguchi Y et al (2004) Phenotypic and functional alterations of peripheral blood monocytes in neutrophil-specific granule deficiency. J Leukoc Biol 75:190–197PubMedCrossRefGoogle Scholar
  455. 456.
    Shyur S-D, Hill HR (1996) Recent advances in the genetics of primary immunodeficiency syndromes. J Pediatr 129: 8–24PubMedCrossRefGoogle Scholar
  456. 457.
    Siegel SC (1988) Recurrent and chronic upper respiratory infections and chronic otitis media. In: Bierman CW, Pearlman DS (eds) Allergic diseases from infancy to adulthood, 2nd edn. WB Saunders, Philadelphia, pp 717–729Google Scholar
  457. 458.
    Simon H-U, Higgins EA, Demetriou M, Datti A, Siminovitch KA, Dennis JW (1993) Defective expression of CD23 and autocrine growth-stimulation in Epstein-Barr virus-transformed B cells from patients with WiskottAldrich syndrome. Clin Exp Immunol 91:43–49PubMedCrossRefGoogle Scholar
  458. 459.
    Sitz KV, Burks AW, Williams LW, Kemp ST, Steele RW (1990) Confirmation of X-linked hypogammaglobulinemia with isolated growth hormone deficiency as a disease entity. J Pediatr 116:292–294PubMedCrossRefGoogle Scholar
  459. 460.
    Skoda-Smith S, Sumegi J, Gross TG et al (1995) A new kindred with X-linked lymphoproliferative disease. Ann Allergy Asthma Immunol 74:96AGoogle Scholar
  460. 461.
    Skull S, Kemp A (1996) Treatment of hypogammaglobulinaemia with intravenous immunoglobulin, 1973–93. Arch Dis Child 74:527–530PubMedGoogle Scholar
  461. 462.
    Smith CIE, Ochs HD, Puck JM (1999) Genetically determined immunodeficiency diseases: a perspective. In: Ochs HD, Smith CIE, Puck JM (eds) Primary immunodeficiency diseases: a molecular and genetic approach. Oxford University Press, New York, pp 3–11Google Scholar
  462. 463.
    Smith DK, Neal JJ, Holmberg SD et al (1993) Unexplained opportunistic infections and CD4+ T-lymphocytopenia without HIV infection. An investigation of cases in the United States. N Engl J Med 328:373–379PubMedCrossRefGoogle Scholar
  463. 464.
    Smith OP, Hann IM, Chessells JM, Reeves BR, Milla P (1996) Haematological abnormalities in Shwachman-Diamond syndrome. Br J Haematol 94:279–284PubMedCrossRefGoogle Scholar
  464. 465.
    Smith TF (1992) IgG subclasses. Adv Pediatr 39:101–119PubMedGoogle Scholar
  465. 466.
    Smogorzewska EM, Brooks J, Annett G et al (2000) T cell depleted haploidentical bone marrow transplantation for the treatment of children with severe combined immunodeficiency. Arch Immunol Ther Exp 48:111–118Google Scholar
  466. 467.
    Snapper SB, Rosen FS (2003) A family of WASPs. N Engl J Med 348:350–351PubMedCrossRefGoogle Scholar
  467. 468.
    Sneller MC, Wang J, Dale JK et al (1997) Clinical, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis. Blood 89:1341–1348PubMedGoogle Scholar
  468. 469.
    Soothill JF, Harvey BAM (1976) Defective opsonization. A common immunity deficiency. Arch Dis Child 51:91–99PubMedGoogle Scholar
  469. 470.
    Sorensen RU, Moore C (1994) Immunology in the pediatrician’s office. Pediatr Clin North Am 41:691–714PubMedGoogle Scholar
  470. 471.
    Soudais C, De Villartay JP, le Deist F, Fischer A, LisowskaGrospierre B (1993) Independent mutations of the human CD3ε gene resulting in a T cell receptor/CD3 complex immunodeficiency. Nature Genet 3:77–81PubMedCrossRefGoogle Scholar
  471. 472.
    Spector BD, Perry CS IIII, Kersey GH (1978) Genetically determined immunodeficiency disease and malignancy report from Immunodeficiency Cancer Registry. Clin Immunol Immunopathol 11:12–29PubMedCrossRefGoogle Scholar
  472. 473.
    Steimle V, Otten LA, Zufferey M, Mach B (1993) Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome). Cell 75:135–146PubMedGoogle Scholar
  473. 474.
    Stephan V, Vickova V, le Deist F et al (1993) Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients. J Pediatr 123:564–572PubMedCrossRefGoogle Scholar
  474. 475.
    Stephan V, Wahn V, le Deist F et al (1996) Atypical X-linked severe combined immunodeficiency due to a possible spontaneous reversion of the genetic defect in T cells. N Engl J Med 335:1563–1567PubMedCrossRefGoogle Scholar
  475. 476.
    Stewart DM, Notarangelo L, Kurman CC, Staudt LM, Nelson DM (1995) Molecular genetic analysis of X-linked hypogammaglobulinemia and isolated growth hormone deficiency. J Immunol 155:2770–2774PubMedGoogle Scholar
  476. 477.
    Stewart DM, Treiber-Held S, Kurman CC, Facchetti F, Notarangelo L, Nelson DM (1996) Studies of the expression of the Wiskott-Aldrich syndrome protein. J Clin Invest 97:2627–2634PubMedGoogle Scholar
  477. 478.
    Stiehm ER (1993) New and old immunodeficiencies. Pediatr Res 33:S2–S7PubMedCrossRefGoogle Scholar
  478. 479.
    Stiehm ER, Roberts RL, Hanley-Lopez J et al (1996) Bone marrow transplantation in severe combined immunodeficiency from a sibling who had received a paternal bone marrow transplant. N Engl J Med 335:1811–1814PubMedCrossRefGoogle Scholar
  479. 480.
    Stiehm ER, Ochs HD, Winkelstein JA (2004) Immunodeficiency disorders: general considerations. In: Stiehm ER, Ochs HD, Winkelstein JA (eds) Immunologic disorders in infants and children, 5th edn. Elsevier, Saunders, Philadelphia, pp 289–355Google Scholar
  480. 481.
    Stowers L, Yelon D, Berg LJ, Chant J (1995) Regulation of the polarization of T cells toward antigen-presenting cells by Ras-related GTPase Cdc42. Proc Natl Acad Sci U S A 92:5027–5031PubMedCrossRefGoogle Scholar
  481. 482.
    Stray-Pedersen A, Abrahamsen TG, Froland SS (2000) Primary immunodeficiency diseases in Norway. J Clin Immunol 20:477–485PubMedCrossRefGoogle Scholar
  482. 483.
    Strom TS, Gabbard W, Kelly PF, Cunningham JM, Nienhuis W (2003) Functional correction of T cells derived from patients with the Wiskott-Aldrich syndrome (WAS) by transduction with an oncoretroviral vector encoding the WAS protein. Gene Ther 10:803–809PubMedCrossRefGoogle Scholar
  483. 484.
    Sullivan KE, Mullen CA, Blaese RM, Winkelstein JA (1994) A multi-institutional survey of the Wiskott-Aldrich syndrome. J Pediatr 125:876–885PubMedCrossRefGoogle Scholar
  484. 485.
    Sumiya M, Super M, Tabona P et al (1991) Molecular basis of opsonic defect in immunodeficient children. Lancet 337:1569–1570PubMedCrossRefGoogle Scholar
  485. 486.
    Summerfield JA, Sumiya M, Levin M, Turner MW (1997) Associations of mutations in mannose binding protein gene with childhood infection in consecutive hospital series. BMJ 314:1229–1232PubMedGoogle Scholar
  486. 487.
    Super M, Thiel S, Lu J, Levinsky RJ, Turner MW (1989) Association of low levels of mannan-binding protein with a common defect of opsonisation. Lancet ii:1236–1239CrossRefGoogle Scholar
  487. 488.
    Swart AG, Fijen CAP, Kuijper EJ et al (1991) Complement deficiencies in infections with Neisseria meningitidis. Complement Inflamm 8:227–228Google Scholar
  488. 489.
    Swift M (1990) Genetic aspects of ataxia-telangiectasia. Immunodef Rev 2:68–71Google Scholar
  489. 490.
    Symons M, Derry JMJ, Karlak B et al (1996) Wiskott-Aldrich syndrome protein, a novel effector for the GTPase Cdc42, is implicated in actin polymerization. Cell 84: 723–734PubMedCrossRefGoogle Scholar
  490. 491.
    Tabori U, Mark Z, Amariglio N et al (2004) Detection of RAG mutations and prenatal diagnosis in families presenting with either T-B-severe combined immunodeficiency or Omenn’s syndrome. Clin Genet 65:322–326PubMedCrossRefGoogle Scholar
  491. 492.
    Taki HN, Schwartz SA (1993) Two siblings with recurrent infections. Ann Allergy 71:435–438PubMedGoogle Scholar
  492. 493.
    Taylor B, Norman AP, Orgel HA, Stokes CR, Turner MW, Soothill JF (1973) Transient IgA deficiency and pathogenesis of infantile atopy. Lancet ii:111–113CrossRefGoogle Scholar
  493. 494.
    Tchilian EZ, Wallace DL, Wells RS, Flower DR, Morgan G, Beverley PC (2001) A deletion in the gene encoding the CD45 antigen in a patient with SCID. J Immunol 166: 1308–1313PubMedGoogle Scholar
  494. 495.
    Tedesco F, Nürnberger W, Perissutti S (1993) Inherited deficiencies of the terminal complement components. Int Rev Immunol 10:51–64PubMedCrossRefGoogle Scholar
  495. 496.
    Thoenes G, Soudais C, le Deist F, Griscelli C, Fischer A, Lisowska-Grospierre B (1992) Structural analysis of low TCR-CD3 complex expression in T cells of an immunodeficient patient. J Biol Chem 267:487–493PubMedGoogle Scholar
  496. 497.
    Thomas RA, Landing BH, Wells TR (1987) Embryologic and other developmental considerations of thirty-eight possible variants of the DiGeorge anomaly. Am J Med Genet Suppl 3:43–66PubMedCrossRefGoogle Scholar
  497. 498.
    Thomas C, Le Deist F, Cavazzana-Calvo M et al (1995) Results of allogeneic bone marrow transplantation in patients with leukocyte adhesion deficiency. Blood 86: 1629–1635PubMedGoogle Scholar
  498. 499.
    Thomas C, le Deist F, de Saint-Basile G et al (1995) Brief report: correction of X-linked hyper-IgM syndrome by allogeneic bone marrow transplantation. N Engl J Med 333:426–429PubMedCrossRefGoogle Scholar
  499. 500.
    Thompson A, Hendricks RW, Kraakman MEM et al (1990) Severe combined immunodeficiency in man with an absence of immunoglobulin gene rearrangement but normal T-cell receptor assembly. Eur J Immunol 20:2051–2056PubMedCrossRefGoogle Scholar
  500. 501.
    Thrasher AJ, Segal AW (1994) Chronic granulomatous disease. Biochim Biophys Acta 1227:1–24PubMedGoogle Scholar
  501. 502.
    Ticchioni M, Charvet C, Noraz N et al (2002) Signaling through ZAP-70 is required for CXCL12-mediated T-cell transendothelial migration. Blood 99:3111–3118PubMedCrossRefGoogle Scholar
  502. 503.
    Tomizawa D, Imai K, Ito S et al (2004) Allogeneic hematopoietic stem cell transplantation for seven children with X-linked hyper-IgM syndrome: a single center experience. Am J Hematol 76:33–39PubMedCrossRefGoogle Scholar
  503. 504.
    Touraine JL, Raudrant D, Laplace S et al (1999) Stem cell transplants in utero for genetic diseases: treatment and a model for induction of immunological tolerance. Transplant Proc 31:681–682PubMedCrossRefGoogle Scholar
  504. 505.
    Tsukada S, Saffran DC, Rawlings DJ et al (1993) Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia. Cell 72:279–290PubMedCrossRefGoogle Scholar
  505. 506.
    Turner MW (1996) Mannose-binding lectin: the pluripotent molecule of the innate immune system. Immunol Today 17 532–540PubMedCrossRefGoogle Scholar
  506. 507.
    Ugazio AG, De Martino M, Pignata C et al (1991) Consensus conference: Il bambino con deficit di IgA: le caratteristiche cliniche, immunologiche e genetiche per una corretta gestione. Riv Immunol Allergol Pediatr 5:21–29Google Scholar
  507. 508.
    Ugazio AG, Duse M, Notarangelo LD, Plebani A, Porta F (1995) Il bambino immunodepresso, 2nd edn. CEA, MilanGoogle Scholar
  508. 509.
    Uziel G, Holland SM (2000) Thl T-cell and monocyte defects. Pediatr Clin North Am 47:1275–1289CrossRefGoogle Scholar
  509. 510.
    Van der Burg M, de Groot R, Comans-Bitter WM et al (2000) Autoimmune lymphoproliferative syndrome (ALPS) in a child from consanguineous parents: a dominant or recessive disease? Pediatr Res 47:336–343PubMedCrossRefGoogle Scholar
  510. 511.
    Velázquez FR, Matson DO, Calva JJ et al (1996) Rotavirus infection in infants as protection against subsequent infections. N Engl J Med 335:1022–1028PubMedCrossRefGoogle Scholar
  511. 512.
    Vercelli D, Jabara HH, Cunningham-Rundles S et al (1990) Regulation of immunoglobulin (Ig)E synthesis in the hyper IgE syndrome. J Clin Invest 85:1–6Google Scholar
  512. 513.
    Vetrie D, Vorechovsky I, Sideras P et al (1993) The gene involved in X-linked agammaglobulinemia is a member of the src family of protein-kinases. Nature 361:226–233PubMedCrossRefGoogle Scholar
  513. 514.
    Vihinen M, Arredondo-Vega FX, Casanova JL et al (2001) Primary immunodeficiency mutation databases. Adv Genet 43:103–188PubMedGoogle Scholar
  514. 515.
    Villa A, Sobacchi C, Notarangelo LD et al (2001) V(D) J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. Blood 97:81–88PubMedCrossRefGoogle Scholar
  515. 516.
    Virts EL, Diago O, Raschke WC (2003) A CD45 minigene restores regulated isoform expression and immune function in CD45-deficient mice: therapeutic implications for human CD45-null severe combined immunodeficiency. Blood 101:849–855PubMedCrossRefGoogle Scholar
  516. 517.
    Vitale M, Zimmer J, Castriconi R et al (2002) Analysis of natural killer cells in TAP2-deficient patients: expression of functional triggering receptors and evidence for the existence of inhibitory receptor(s) that prevent lysis of normal autologous cells Blood 99:1723–1729PubMedCrossRefGoogle Scholar
  517. 518.
    Volonakis JE, Zhu Z, Schaffer FM et al (1992) Major histocompatibility complex class III genes and susceptibility to immunoglobulin deficiency and common variable immunodeficiency. J Clin Invest 89:1914–1922Google Scholar
  518. 519.
    Volovitz B, Faden H, Ogra PL (1988) Release of leukotriene C4 in respiratory tract during acute viral infection. J Pediatr 112:218–222PubMedCrossRefGoogle Scholar
  519. 520.
    Vossbeck S, Knobloch C, Heymer B, Hartmann W, Friedrich W (1992) Schwerer kombinierter Immundefekt. Monatsschr Kinderheilkd 140:188–193PubMedGoogle Scholar
  520. 521.
    Wabl M, Steinberg C (1996) Affinity maturation and class switching. Curr Opin Immunol 8:89–92PubMedCrossRefGoogle Scholar
  521. 522.
    Wahn U (1995) Evaluation of the child with suspectedprimary immunodeficiency. Pediatr Allergy Immunol 6:71–79PubMedCrossRefGoogle Scholar
  522. 523.
    Wald ER, Dashefsky B, Byers C, Guerra N, Taylor F (1988) Frequency and severity of infections in day care. J Pediatr 112:540–546PubMedCrossRefGoogle Scholar
  523. 524.
    Wald ER, Guerra N, Byers C (1991) Upper respiratory tract infections in young children: duration and frequency of complications. Pediatrics 87:129–133PubMedGoogle Scholar
  524. 525.
    Walker AM, Kemp AS, Hill DJ, Shelton MJ (1994) Features of transient hypogammaglobulinaemia in infants screened for immunological abnormalities. Arch Dis Child 70:183–186PubMedCrossRefGoogle Scholar
  525. 526.
    Ward DM, Shiflett SL, Kaplan J (2002) Chediak-Higashi syndrome: a clinical and molecular view of a rare lysosomal storage disorder. Curr Mol Med 2:469–477PubMedCrossRefGoogle Scholar
  526. 527.
    Webster ADB, Farrant J, Hany M, North M, Touby E, Beattle R (1991) Clinical and cellular features of “common variable” hypogammaglobulinemia. EOS 11:32–35Google Scholar
  527. 528.
    Wedgwood RL, Ochs HD, Oxelius V-A (1986) IgG subclass levels in the serum of patients with primary immunodeficiency. Monogr Allergy 20:80–89PubMedGoogle Scholar
  528. 529.
    Weinberg K, Parkman R (1990) Severe combined immunodeficiency due to a specific defect in the production of interleukin-2. N Engl J Med 322:1718–1723PubMedCrossRefGoogle Scholar
  529. 530.
    Weinberger M (2003) Clinical patterns and natural history of asthma. J Pediatr 142[Suppl 2]:S15–S19; discussion S19–S20PubMedGoogle Scholar
  530. 531.
    Wen L, Atkinson JP, Giclas PC (2004) Clinical and laboratory evaluation of complement deficiency. J Allergy Clin Immunol 113:585–593PubMedCrossRefGoogle Scholar
  531. 532.
    Wengler GS, Lanfranchi A, Frusca T et al (1996) In-utero transplantation of parental CD34 haematopoietic progenitor cells in a patient with X-linked severe combined immunodeficiency. Lancet 348:1484–1487PubMedCrossRefGoogle Scholar
  532. 533.
    Wientjes FB, Hsuan JJ, Totty NF et al (1993) p40phox, a third cytosolic component of the activation complex of the NANPH-oxidase to contain SH3 domain. Biochem J 1993; 296:557–561PubMedGoogle Scholar
  533. 534.
    Williams DA, Tao W, Yang F et al (2000) Dominant negative mutation of the hematopoietic-specific Rho GTPase, Rac2, is associated with a human phagocyte immunodeficiency. Blood 96:1646–1654PubMedGoogle Scholar
  534. 535.
    Wilson DI, Cross EI, Goodship JA et al (1992) A prospective cytogenetic study of 36 cases of DiGeorge syndrome. Am J Hum Genet 51:957–963PubMedGoogle Scholar
  535. 536.
    Wilton AN, Cobain TJ, Dawkins RL (1985) Family studies of IgA deficiency. Immunogenetics 21:333–342PubMedCrossRefGoogle Scholar
  536. 537.
    Winkelstein JA, Fearon ER (1990) Carrier detection of the X-linked immunodeficiency diseases using X-chromosome inactivation analysis. J Allergy Clin Immunol 85: 1090–1096PubMedCrossRefGoogle Scholar
  537. 538.
    Winkelstein JA, Marino MC, Johnston RB Jr et al (2000) Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine (Baltimore) 79:155–169CrossRefGoogle Scholar
  538. 539.
    Winkelstein JA, Marino MC, Ochs H et al (2003) The Xlinked hyper-IgM syndrome: clinical and immunologic features of 79 patients. Medicine (Baltimore) 82:373–484CrossRefGoogle Scholar
  539. 540.
    Wolf HM, Hauber I, Guile H et al (1995) Brief report: twin boys with major histocompatibility complex class II deficiency but inducible immune responses. N Engl J Med 332:86–90PubMedCrossRefGoogle Scholar
  540. 541.
    Woodin M, Wang PP, Aleman D, McDonald-McGinn D, Zackai E, Moss E (2001) Neuropsychological profile of children and adolescents with the 22q11.2 microdeletion. Genet Med 3:34–39PubMedCrossRefGoogle Scholar
  541. 542.
    World Health Organization (2003) Case definition for surveillance of severe acute respiratory syndrome SARS. (accessed April 24, 2003)
  542. 543.
    World Health Organization Scientific Group (1997) Primary immunodeficiency diseases. Clin Exp Immunol 109[Suppl 1]:1–28Google Scholar
  543. 544.
    Yagi H, Furutani Y, Hamada H, Sasaki T, Asakawa S, Minoshima S et al (2003) Role of TBX1 in human del22q11.2 syndrome. Lancet. 362:1366–1373PubMedCrossRefGoogle Scholar
  544. 545.
    Yakisan E, Schirg E, Zeidler C et al (1997) High incidence of significant bone loss in patients with severe congenital neutropenia (Kostmann’s syndrome). J Pediatr 131:592–597PubMedCrossRefGoogle Scholar
  545. 546.
    Yazdani S, Stiehm R (2003) Topical imiquimod for Molluscum contagiosum in T-cell immunodeficiency. Pediatr Infec Dis J 22:575–576CrossRefGoogle Scholar
  546. 547.
    Yel L, Minegishi Y, Coustan-Smith E et al (1996) Mutations in the mu heavy-chain gene in patients with agammaglobulinemia. N Engl J Med 335:1486–1493PubMedCrossRefGoogle Scholar
  547. 548.
    Yel L, Conley ME, Herrod HG et al (1998) Immunological findings in infants with Wiskott-Aldrich syndrome. J Allergy Clin Immunol 101:S70Google Scholar
  548. 549.
    Yokota S, Mitsuda S, Shimizu H, Ibe M, Matsuyama S (1990) Chromoglycate treatment of patient with hyperimmunoglobulinaemia E syndrome (letter). Lancet 335: 857–858PubMedCrossRefGoogle Scholar
  549. 550.
    Zelazko M, Carneiro-Sampaio M, Cornejo de Luigi M et al (1998) Primary immunodeficiency diseases in Latin America: first report from eight countries participating in the LAGID. Latin American Group for Primary Immunodeficiency Diseases. J Clin Immunol 18:161–166PubMedCrossRefGoogle Scholar
  550. 551.
    Zhou H, Wertz I, O’Rourke K et al (2004) Bcl10 activates the NF-kappaB pathway through ubiquitination of NEMO. Nature 427:167–171PubMedCrossRefGoogle Scholar
  551. 552.
    Zinkernagel RM, Hengartner H (1992) Virally induced immunosuppression. Curr Opin Immunol 4:408–412PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2008

Personalised recommendations