Advertisement

Other Well-Defined Immunodeficiency Syndromes

  • Teresa Espanol
  • Cristina Fillat
  • Isil B. Barlan
  • Elif Aydiner
  • Fabiola Caracseghi
  • Tim Niehues
  • Pere Soler-Palacín
  • Nima Rezaei
Chapter

Abstract

Five broad and major groups of PID classification have been known as CID, PAD, phagocyte disorders, complement deficiencies, as well as other well-defined immunodeficiency syndromes. The former includes Wiskott-Aldrich syndrome (WAS), which presents as a clinical triad of eczema, thrombocytopenia, and recurrent infections. Patients exhibit a variety of laboratory abnormalities, including decreases in peripheral blood CD8+ T cells. A flow cytometric assay for the detection of Wiskott-Aldrich syndrome protein (WASP) protein in lymphocytes has recently been described and applied to the diagnostic evaluation of both WAS patients and carriers of WASP mutations [1].

Keywords

Ataxia Telangiectasia Ataxia Telangiectasia Primary Immunodeficiency Disease Nijmegen Breakage Syndrome Severe Atopic Dermatitis 
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.

References

  1. 1.
    Yamada M, Ohtsu M, Kobayashi I, Kawamura N, Kobayashi K, Ariga T, Sakiyama Y, Nelson DL, Tsuruta S, Anakura M, Ishikawa N (1999) Flow cytometric analysis of Wiskott-Aldrich syndrome (WAS) protein in lymphocytes from WAS patients and their familial carriers. Blood 93(2):756–757PubMedGoogle Scholar
  2. 2.
    Bastian J, Law S, Vogler L, Lawton A, Herrod H, Anderson S, Horowitz S, Hong R (1989) Prediction of persistent immunodeficiency in the DiGeorge anomaly. J Pediatr 115(3):391–396PubMedCrossRefGoogle Scholar
  3. 3.
    Sullivan KE, Jawad AF, Randall P, Driscoll DA, Emanuel BS, McDonald-McGinn DM, Zackai EH (1998) Lack of correlation between impaired T cell production, immunodeficiency, and other phenotypic features in chromosome 22q11.2 deletion syndromes. Clin Immunol Immunopathol 86(2):141–146PubMedCrossRefGoogle Scholar
  4. 4.
    Ochs HD, Thrasher AJ (2006) The Wiskott-Aldrich syndrome. J Allergy Clin Immunol 117(4):725–738, quiz 739PubMedCrossRefGoogle Scholar
  5. 5.
    Bouma G, Burns SO, Thrasher AJ (2009) Wiskott-Aldrich Syndrome: Immunodeficiency resulting from defective cell migration and impaired immunostimulatory activation. Immunobiology 214(9–10):778–790PubMedCrossRefGoogle Scholar
  6. 6.
    Rezaei N, Aghamohammadi A, Notarangelo LD (2008) Primary immunodeficiency diseases: definition, diagnosis and management, vol 1. Springer, Berlin HeidelbergCrossRefGoogle Scholar
  7. 7.
    Freeman AF, Holland SM (2009) Clinical manifestations, etiology, and pathogenesis of the hyper-IgE syndromes. Pediatr Res 65(5 Pt 2):32R–37RPubMedCrossRefGoogle Scholar
  8. 8.
    Clinical Working Party of the European Society for Immunodeficiencies (ESID). Diagnostic criteria for PID (2005). Available: http://www.esid.org/clinical-diagnostic-criteria-for-pid-73-0. Accessed on September 2009
  9. 9.
    Ochs HD, Filipovich AH, Veys P, Cowan MJ, Kapoor N (2009) Wiskott-Aldrich syndrome: diagnosis, clinical and laboratory manifestations, and treatment. Biol Blood Marrow Transplant 15(1 Suppl):84–90PubMedCrossRefGoogle Scholar
  10. 10.
    Stiehm ER, Ochs HD, Winkelstein JA (2004) Immunologic disorders in infants and children. Immunologic disorders in infants and children, 5th edn. WB Saunders, PhiladelphiaGoogle Scholar
  11. 11.
    Ozsahin H, Cavazzana-Calvo M, Notarangelo LD, Schulz A, Thrasher AJ, Mazzolari E, Slatter MA, Le Deist F, Blanche S, Veys P, Fasth A, Bredius R, Sedlacek P, Wulffraat N, Ortega J, Heilmann C, O’Meara A, Wachowiak J, Kalwak K, Matthes-Martin S, Gungor T, Ikinciogullari A, Landais P, Cant AJ, Friedrich W, Fischer A (2008) Long-term outcome following hematopoietic stem-cell transplantation in Wiskott-Aldrich syndrome: collaborative study of the European Society for Immunodeficiencies and European Group for Blood and Marrow Transplantation. Blood 111(1):439–445PubMedCrossRefGoogle Scholar
  12. 12.
    Qasim W, Gaspar HB, Thrasher AJ (2009) Progress and prospects: gene therapy for inherited immunodeficiencies. Gene Ther 16(11):1285–1291PubMedCrossRefGoogle Scholar
  13. 13.
    Aiuti A, Roncarolo MG (2009) Ten years of gene therapy for primary immune deficiencies. Hematology Am Soc Hematol Educ Program, vol. 1, 682–689Google Scholar
  14. 14.
    Gaspar HB, Amrolia P, Hassan A, Webb D, Jones A, Sturt N, Vergani G, Pagliuca A, Mufti G, Hadzic N, Davies G, Veys P (2002) Non-myeloablative stem cell transplantation for congenital immunodeficiencies. Recent Results Cancer Res 159:134–142PubMedCrossRefGoogle Scholar
  15. 15.
    Greystoke B, Bonanomi S, Carr TF, Gharib M, Khalid T, Coussons M, Jagani M, Naik P, Rao K, Goulden N, Amrolia P, Wynn RF, Veys PA (2008) Treosulfan-containing regimens achieve high rates of engraftment associated with low transplant morbidity and mortality in children with non-malignant disease and significant co-morbidities. Br J Haematol 142(2):257–262PubMedCrossRefGoogle Scholar
  16. 16.
    Filipovich AH, Stone JV, Tomany SC, Ireland M, Kollman C, Pelz CJ, Casper JT, Cowan MJ, Edwards JR, Fasth A, Gale RP, Junker A, Kamani NR, Loechelt BJ, Pietryga DW, Ringden O, Vowels M, Hegland J, Williams AV, Klein JP, Sobocinski KA, Rowlings PA, Horowitz MM (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(6):1598–1603PubMedCrossRefGoogle Scholar
  17. 17.
    Sullivan KE, Mullen CA, Blaese RM, Winkelstein JA (1994) A multiinstitutional survey of the Wiskott-Aldrich syndrome. J Pediatr 125(6 Pt 1):876–885PubMedGoogle Scholar
  18. 18.
    Imai K, Morio T, Zhu Y, Jin Y, Itoh S, Kajiwara M, Yata J, Mizutani S, Ochs HD, Nonoyama S (2004) Clinical course of patients with WASP gene mutations. Blood 103(2):456–464PubMedCrossRefGoogle Scholar
  19. 19.
    Dupuis-Girod S, Medioni J, Haddad E, Quartier P, Cavazzana-Calvo M, Le Deist F, de Saint BG, Delaunay J, Schwarz K, Casanova JL, Blanche S, Fischer A (2003) Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients. Pediatrics 111(5 Pt 1):e622–e627PubMedCrossRefGoogle Scholar
  20. 20.
    Blanckaert K, De Vriese AS (2006) Current recommendations for diagnosis and management of polyoma BK virus nephropathy in renal transplant recipients. Nephrol Dial Transplant 21(12):3364–3367PubMedCrossRefGoogle Scholar
  21. 21.
    Mihatsch MJ, Thiel G, Ryffel B (1988) Histopathology of cyclosporine nephrotoxicity. Transplant Proc 20(3 Suppl 3):759–771PubMedGoogle Scholar
  22. 22.
    Yeganeh M, Gambineri E, Abolmaali K, Tamizifar B, Español T (2008) Other well-defined immunodeficiencies. In: Rezaei N, Aghamohammadi A, Notarangelo LD (eds) Primary immunodeficiency diseases: definition, diagnosis and management, vol 1. Springer, Berlin HeidelbergGoogle Scholar
  23. 23.
    Ochs HD, Rosen FS (2007) Wiskott-Aldrich syndrome. In: Ochs HD, Smith CIE, Puck JM (eds) Primary immunodeficiency diseases: a molecular and genetic approach. Oxford University Press, New York, pp 454–469Google Scholar
  24. 24.
    Fillat C, Espanol T, Oset M, Ferrando M, Estivill X, Volpini V (2001) Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome. Am J Med Genet 100(2):116–121PubMedCrossRefGoogle Scholar
  25. 25.
    Gismondi A, Cifaldi L, Mazza C, Giliani S, Parolini S, Morrone S, Jacobelli J, Bandiera E, Notarangelo L, Santoni A (2004) Impaired natural and CD16-mediated NK cell cytotoxicity in patients with WAS and XLT: ability of IL-2 to correct NK cell functional defect. Blood 104(2):436–443PubMedCrossRefGoogle Scholar
  26. 26.
    Murphy S, Oski FA, Gardner FH (1969) Hereditary thrombocytopenia with an intrinsic platelet defect. N Engl J Med 281(16):857–862PubMedCrossRefGoogle Scholar
  27. 27.
    Zhu Q, Watanabe C, Liu T, Hollenbaugh D, Blaese RM, Kanner SB, Aruffo A, Ochs HD (1997) Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype. Blood 90(7):2680–2689PubMedGoogle Scholar
  28. 28.
    Notarangelo LD, Mazza C, Giliani S, D’Aria C, Gandellini F, Ravelli C, Locatelli MG, Nelson DL, Ochs HD (2002) Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia. Blood 99(6):2268–2269PubMedCrossRefGoogle Scholar
  29. 29.
    Villa A, Notarangelo L, Macchi P, Mantuano E, Cavagni G, Brugnoni D, Strina D, Patrosso MC, Ramenghi U, Sacco MG et al (1995) X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. Nat Genet 9(4):414–417PubMedCrossRefGoogle Scholar
  30. 30.
    Al Khatib S, Keles S, Garcia-Lloret M, Karakoc-Aydiner E, Reisli I, Artac H, Camcioglu Y, Cokugras H, Somer A, Kutukculer N, Yilmaz M, Ikinciogullari A, Yegin O, Yuksek M, Genel F, Kucukosmanoglu E, Baki A, Bahceciler NN, Rambhatla A, Nickerson DW, McGhee S, Barlan IB, Chatila T (2009) Defects along the T(H)17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome. J Allergy Clin Immunol 124(2):342–348, 348.e1–348.e5PubMedCrossRefGoogle Scholar
  31. 31.
    Heimall J, Freeman A, Holland SM (2010) Pathogenesis of hyper IgE syndrome. Clin Rev Allergy Immunol 38(1):32–38PubMedCrossRefGoogle Scholar
  32. 32.
    Bieber T, Novak N (2009) Pathogenesis of atopic dermatitis: new developments. Curr Allergy Asthma Rep 9(4):291–294PubMedCrossRefGoogle Scholar
  33. 33.
    Stasia MJ, Li XJ (2008) Genetics and immunopathology of chronic granulomatous disease. Semin Immunopathol 30(3):209–235PubMedCrossRefGoogle Scholar
  34. 34.
    Paulson ML, Freeman AF, Holland SM (2008) Hyper IgE syndrome: an update on clinical aspects and the role of signal transducer and activator of transcription 3. Curr Opin Allergy Clin Immunol 8(6):527–533PubMedCrossRefGoogle Scholar
  35. 35.
    Kimata H (1995) High-dose intravenous gamma-globulin treatment for hyperimmunoglobulinemia E syndrome. J Allergy Clin Immunol 95(3):771–774PubMedCrossRefGoogle Scholar
  36. 36.
    Wakim M, Alazard M, Yajima A, Speights D, Saxon A, Stiehm ER (1998) High dose intravenous immunoglobulin in atopic dermatitis and hyper-IgE syndrome. Ann Allergy Asthma Immunol 81(2):153–158PubMedCrossRefGoogle Scholar
  37. 37.
    King CL, Gallin JI, Malech HL, Abramson SL, Nutman TB (1989) Regulation of immunoglobulin production in hyperimmunoglobulin E recurrent-infection syndrome by interferon gamma. Proc Natl Acad Sci USA 86(24):10085–10089PubMedCrossRefGoogle Scholar
  38. 38.
    Tangye SG, Cook MC, Fulcher DA (2009) Insights into the role of STAT3 in human lymphocyte differentiation as revealed by the hyper-IgE syndrome. J Immunol 182(1):21–28PubMedGoogle Scholar
  39. 39.
    Minegishi Y, Karasuyama H (2008) Genetic origins of hyper-IgE syndrome. Curr Allergy Asthma Rep 8(5):386–391PubMedCrossRefGoogle Scholar
  40. 40.
    Zhang Q, Davis JC, Lamborn IT, Freeman AF, Jing H, Favreau AJ, Matthews HF, Davis J, Turner ML, Uzel G, Holland SM, Su HC (2009) Combined immunodeficiency associated with DOCK8 mutations. N Engl J Med 361(21):2046–2055PubMedCrossRefGoogle Scholar
  41. 41.
    Sobacchi C, Marrella V, Rucci F, Vezzoni P, Villa A (2006) RAG-dependent primary immunodeficiencies. Hum Mutat 27(12):1174–1184PubMedCrossRefGoogle Scholar
  42. 42.
    Freeman AF, Davis J, Anderson VL, Barson W, Darnell DN, Puck JM, Holland SM (2006) Pneumocystis jiroveci infection in patients with hyper-immunoglobulin E syndrome. Pediatrics 118(4):e1271–e1275PubMedCrossRefGoogle Scholar
  43. 43.
    LaPine TR, Hill HR (2009) Hyperimmunoglobulin E syndrome. In: Basow DS (ed) UpToDate. UpToDate, WalthamGoogle Scholar
  44. 44.
    Grimbacher B, Holland SM, Puck JM (2005) Hyper-IgE syndromes. Immunol Rev 203:244–250PubMedCrossRefGoogle Scholar
  45. 45.
    Grimbacher B, Holland SM, Gallin JI, Greenberg F, Hill SC, Malech HL (2002) Diagnosing the hyper-IgE syndrome: incidence of clinical features. Immunología 21:2–4Google Scholar
  46. 46.
    Yua JE, Knighta AK, Nowak A, Ayusoa R, Steenburgh E, Cunningham C (2009) The hyper IgE scoring system: is it hyper IgE or not? J Allergy Clin Immunol 123:87Google Scholar
  47. 47.
    Grimbacher B, Schaffer AA, Holland SM, Davis J, Gallin JI, Malech HL, Atkinson TP, Belohradsky BH, Buckley RH, Cossu F, Espanol T, Garty BZ, Matamoros N, Myers LA, Nelson RP, Ochs HD, Renner ED, Wellinghausen N, Puck JM (1999) Genetic linkage of hyper-IgE syndrome to chromosome 4. Am J Hum Genet 65(3):735–744PubMedCrossRefGoogle Scholar
  48. 48.
    Hall RA, Salhany KE, Lebel E, Bavaria JE, Kaiser LR (1995) Fungal pulmonary abscess in an adult secondary to hyperimmunoglobulin E (Job’s) syndrome. Ann Thorac Surg 59(3):759–761PubMedCrossRefGoogle Scholar
  49. 49.
    Bilora F, Petrobelli F, Boccioletti V, Pomerri F (2000) Moderate-dose intravenous immunoglobulin treatment of Job’s syndrome. Case report. Minerva Med 91(5–6):113–116PubMedGoogle Scholar
  50. 50.
    Etzioni A, Shehadeh N, Brecher A, Yorman S, Pollack S (1997) Cyclosporin A in hyperimmunoglobulin E syndrome. Ann Allergy Asthma Immunol 78(4):413–414PubMedCrossRefGoogle Scholar
  51. 51.
    Bard S, Paravisini A, Aviles-Izquierdo JA, Fernandez-Cruz E, Sanchez-Ramon S (2008) Eczematous dermatitis in the setting of hyper-IgE syndrome successfully treated with omalizumab. Arch Dermatol 144(12):1662–1663PubMedCrossRefGoogle Scholar
  52. 52.
    Nester TA, Wagnon AH, Reilly WF, Spitzer G, Kjeldsberg CR, Hill HR (1998) Effects of allogeneic peripheral stem cell transplantation in a patient with job syndrome of hyperimmunoglobulinemia E and recurrent infections. Am J Med 105(2):162–164PubMedCrossRefGoogle Scholar
  53. 53.
    Gennery AR, Flood TJ, Abinun M, Cant AJ (2000) Bone marrow transplantation does not correct the hyper IgE syndrome. Bone Marrow Transplant 25(12):1303–1305PubMedCrossRefGoogle Scholar
  54. 54.
    Taylor AM, Byrd PJ (2005) Molecular pathology of ataxia telangiectasia. J Clin Pathol 58(10):1009–1015PubMedCrossRefGoogle Scholar
  55. 55.
    Schindler D, Seyschab H, Poot M, Hoehn H, Schinzel A, Fryns JP, Tommerup N, Rabinovitch PS (1987) Screening test for ataxia telangiectasia. Lancet 2(8572):1398–1399PubMedCrossRefGoogle Scholar
  56. 56.
    Seyschab H, Schindler D, Friedl R, Barbi G, Boltshauser E, Fryns JP, Hanefeld F, Korinthenberg R, Krageloh-Mann I, Scheres JM et al (1992) Simultaneous measurement, using flow cytometry, of radiosensitivity and defective mitogen response in ataxia telangiectasia and related syndromes. Eur J Pediatr 151(10):756–760PubMedCrossRefGoogle Scholar
  57. 57.
    Staples ER, McDermott EM, Reiman A, Byrd PJ, Ritchie S, Taylor AM, Davies EG (2008) Immunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene. Clin Exp Immunol 153(2):214–220PubMedCrossRefGoogle Scholar
  58. 58.
    Waldmannn TA (1982) Immunological abnormalities in ataxia-telangiectasia. In:Bridges BA, Harnden DG, eds. Ataxia-telangiectasia: a cellular and Molecular link between Cancer Neuropathology and Immune Deficiency. New York: Wiley, pp.37–51.PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2012

Authors and Affiliations

  • Teresa Espanol
    • 1
  • Cristina Fillat
    • 3
    • 4
  • Isil B. Barlan
    • 5
  • Elif Aydiner
    • 5
  • Fabiola Caracseghi
    • 6
  • Tim Niehues
    • 7
  • Pere Soler-Palacín
    • 6
  • Nima Rezaei
    • 8
    • 9
    • 2
  1. 1.Department of Immunology and ImmunodficienciesSchool of Medicine, University Hospital Vall d’HebronBarcelonaSpain
  2. 2.Department of Immunology, School of MedicineTehran University of Medical SciencesTehranIran
  3. 3.Centre de Regulació Genòmica, PF, Parc de Recerca Biomèdica de BarcelonaBarcelonaSpain
  4. 4.Centro de Investigación Biomédica en Red de Enfermedades RarasBarcelonaSpain
  5. 5.Division of Pediatric Allergy/ImmunologyMarmara UniversityIstanbulTurkey
  6. 6.Pediatric Infectious Diseases and Immunodeficiencies UnitVall d’Hebron University HospitalBarcelonaSpain
  7. 7.Centre de Regulació Genòmica, PF, Immunodeficiency and Pediatric Rheumatology Centre, HELIOS Clinic Krefeld, Academic Hospital University of the RWTH AachenKrefeldGermany
  8. 8.Centre de Regulació Genòmica, PF, Research Center for Immunodeficiencies, Children’s Medical Center HospitalTehranIran
  9. 9.Molecular Immunology Research CenterTehranIran

Personalised recommendations