Skip to main content

Advertisement

SpringerLink
Log in

The Wiskott-Aldrich syndrome

  • Published:
Springer Seminars in Immunopathology Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

References

  1. Aldrich RA, Steinberg AG, Campbell DC (1954) Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. Pediatrics 13:133

    Google Scholar 

  2. Altman A, Cohen IR (1974) The nonspecific helper effect of mixed lymphocyte reactions on the induction of T cell-mediated immunity in vitro. Eur J Immunol 4:577

    Google Scholar 

  3. Amaya CA, Dorantes S, Toro AH, Bello A, Cuellar J (1973) Attenuated form of Wiskott-Aldrich syndrome. J Pediatr 82:175

    Google Scholar 

  4. Anriet A (1963) Aldrich-Syndrom: Beobachtung zweier Fälle. Ann Paediatr 201:315

    Google Scholar 

  5. Aspenström P, Lindberg U, Hall A (1996) Two GTPases, cdc42 and rac, bind directly to a protein implicated in the immunodeficiency disorder Wiskott-Aldrich syndrome. Curr Biol 6:70

    Google Scholar 

  6. Ayoub EM, Dudding BA, Cooper MD (1968) Dichotomy of antibody response to group A streptococcal antigens in Wiskott-Aldrich syndrome. J Lab Clin Med 72:971

    Google Scholar 

  7. Baldini MG (1972) Nature of the platelet defect in the Wiskott-Aldrich syndrome. Ann N Y Acad Sci 201:437

    Google Scholar 

  8. Banin S, Truong O, Katz DR, Waterfield MD, Brickell PM, Gout I (1996) Wiskott-Aldrich syndrome protein (WASp) is a binding partner for c-Src family protein-tyrosine kinases. Curr Biol 6:981

    Google Scholar 

  9. Berglund G, Finnström O, Johansson SGO, Möller K-L (1968) Wiskott-Aldrich syndrome. A study of 6 cases with determination of the immunoglobulins A, D, G, M and ND. Acta Paediatr Scand 57:89

    Google Scholar 

  10. Blaese RM, Strober W, Brown RS, Waldmann TA (1968) The Wiskott-Aldrich syndrome. A disorder with a possible defect in antigen processing or recognition. Lancet 1:1056

    Google Scholar 

  11. Blaese RM, Strober W, Levy AL, Waldmann TA (1971) Hypercatabolism of IgG, IgA, IgM, and albumin in the Wiskott-Aldrich syndrome. A unique disorder of serum protein metabolism. J Clin Invest 50:2331

    Google Scholar 

  12. Brand MM, Marinkovich VA (1969) Primary malignant reticulosis of the brain in Wiskott-Aldrich syndrome. Report of a case. Arch Dis Child 44:536

    Google Scholar 

  13. Brochstein JA, Gillio AP, Ruggiero M, Kernan NA, Emanuel D, Laver J, Small T, O'Reilly RJ (1991) Marrow transplantation from human leukocyte antigen-identical or haploidentical donors for correction of Wiskott-Aldrich syndrome. J Pediatr 119:907

    Google Scholar 

  14. Bunnell SC, Henry PA, Kolluri R, Kirchhausen T, Rickles RJ, Berg LJ (1996) Identification of Itk/Tsk Src homology 3 domain ligands. J Biol Chem 271:25646

    Google Scholar 

  15. Canales L, Mauer AM (1967) Sex-linked hereditary thrombocytopenia as a variant of Wiskott-Aldrich syndrome. N Engl J Med 277:899

    Google Scholar 

  16. Chiaro JJ, Dhannkrong-at A, Bloom GE (1972) X-linked thrombocytopenic purpura. 1. Clinical and genetic studies of a kindred. Am J Dis Child 123:565

    Google Scholar 

  17. Conley ME, Wang WC, Parolini O, Shapiro DN, Campana D, Siminovitch KA (1992) Atypical Wiskott-Aldrich syndrome in a girl. Blood 80:1264

    Google Scholar 

  18. Cooper MD, Chase HP, Lowman IT, Krivit W, Good RA (1968) Wiskott-Aldrich syndrome. An immunologic deficiency disease involving the afferent limb of immunity. Am J Med 44:499

    Google Scholar 

  19. Cory GOC, MacCarthy-Morrogh L, Banin S, Gout I, Brickell PM, Levinsky RJ, Kinnon C, Lovering RC (1996) Evidence that the Wiskott-Aldrich syndrome protein may be involved in lymphoid cell signaling pathways. J Immunol 157:3791

    Google Scholar 

  20. Cotelingam JD, Witebsky FG, Hsu SM, Blaese RM, Jaffe ES (1985) Malignant lymphoma in patients with the Wiskott-Aldrich syndrome. Cancer Invest 3:515

    Google Scholar 

  21. Derry JMJ, Kerns JA, Weinberg KI, Ochs HD, Volpini V, Estivill X, Walker AP, Francke U (1995) WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. Hum Mol Genet 4:1127

    Google Scholar 

  22. Derry JMJ, Ochs HD, Francke U (1994) Isolation of a novel gene mutated in Wiskott-Aldrich syndrome (Published erratum appears in Cell 1994 79(5): following 922). Cell 78:635

    Google Scholar 

  23. Derry JMJ, Wiedemann P, Blair P, Wang Y, Kerns JA, Lemahieu V, Godfrey VL, Wilkinson JE, Francke U (1995) The mouse homolog of the Wiskott-Aldrich syndrome protein (WASP) gene is highly conserved and maps near the scurfy (sf) mutation on the X chromosome. Genomics 29:471

    Google Scholar 

  24. DeSaint-Basile G, Arveiler B, Fraser NJ, Boyd Y, Graig IW, Griscelli G, Fischer A (1989) Close linkage of hypervariable marker DXS255 to disease locus of Wiskott-Aldrich syndrome. Lancet 11:1319

    Google Scholar 

  25. DeSaint-Basile G, Lagelouse RD, Lambert N, Schwarz K, Le Mareck B, Odent S, Schlegel N, Fischer A (1996) Isolated X-linked thrombocytopenia in two unrelated families is associated with point mutations in the Wiskott-Aldrich syndrome protein gene. J Pediatr 129:56

    Google Scholar 

  26. Donnér M, Schwartz M, Carlsson KU, Holmberg L (1988) Hereditary X-linked thrombocytopenia maps to the same chromosomal region as the Wiskott-Aldrich syndrome. Blood 72:1849

    Google Scholar 

  27. Evans DI, Holzel A (1970) Immune deficiency state in a girl with eczema and low serum IgM. Possible female variant of Wiskott-Aldrich syndrome. Arch Dis Child 45:527

    Google Scholar 

  28. Fearon ER, Kohn DB, Winkelstein JA, Vogelstein B, Blaese RM (1988) Carrier detection in the Wiskott Aldrich syndrome. Blood 72:1735

    Google Scholar 

  29. Filipovich AH, Pelz C, Sobocinski K, Ireland M, Kollman C, Horowitz MM (1997) Allogeneic bone marrow transplantation (BMT) for Wiskott Aldrich syndrome (WAS): comparison of outcomes by donor type [Abstract]. J Allergy Clin Immunol 99S:102

    Google Scholar 

  30. Finan PM, Soames CJ, Wilson L, Nelson DL, Stewart DM, Truong O, Hsuan JJ, Kellie S (1996) Identification of regions of the Wiskott-Aldrich syndrome protein responsible for association with selected Src homology 3 domains. J Biol Chem 271:26291

    Google Scholar 

  31. Gealy WJ, Dwyer JM, Harley JB (1980) Allelic exclusion of glucose-6-phosphate dehydrogenase in platelets and T lymphocytes from a Wiskott-Aldrich syndrome carImmunol carrier. Lancet 1:63

    Google Scholar 

  32. Greer WL, Higgins E, Sutherland DR, Novogrodsky A, Brockhausen I, Peacocke M, Rubin LA, Baker M, Dennis JW, Siminovitch KA (1989) Altered expression of leukocyte sialoglycoprotein in Wiskott-Aldrich syndrome is associated with a specific defect inO-glycosylation. Biochem Cell Biol 67:503

    Google Scholar 

  33. Greer WL, Kwong PC, Peacocke M, Rubin LA, Siminovitch KA (1989) X-chromosome inactivation in the Wiskott-Aldrich syndrome: a marker for detection of the carrier state and identification of cell lineages expressing the gene defect. Genomics 4:60

    Google Scholar 

  34. Greer WL, Peacocke M, Siminovitch KA (1992) The Wiskott-Aldrich syndrome: refinement of the localization on Xp and identification of another closely linked marker locus, OATLL. Hum Genet 88:453

    Google Scholar 

  35. Greer WL, Somani AK, Kwong PC, Peacocke M, Rubin LA, Siminovitch KA (1990) Linkage relationships of the Wiskott-Aldrich syndrome to 10 loci in the pericentromeric region of the human X chromosome. Genomics 6:568

    Google Scholar 

  36. Greer WL, Shehabeldin A, Schulman J, Junker A, Simonivitch KA (1996) Identification of WASP mutations, mutation hotspots, and genotype-phenotype disparities in 24 patients with the Wiskott-Aldrich syndrome. Hum Genet 98:685

    Google Scholar 

  37. Gröttum KA, Hovig T, Holmsen H, Abrahamsen AF, Jeremic M, Seip M (1969) Wiskott-Aldrich syndrome: qualitative platelet defects and short platelet survival. Br J Haematol 17:373

    Google Scholar 

  38. Haffner C, Jarchau T, Reinhard M, Hoppe J, Lohmann SM, Walter U (1995) Molecular cloning, structural analysis and functional expression of the proline-rich focal adhesion and microfilament-associated protein VASP. EMBO 114:19

    Google Scholar 

  39. Higgins EA, Siminovitch KA, Zhuang DL, Brockhausen I, Dennis JW (1991) AberrantO-linked oligosaccharide biosynthesis in lymphocytes and platelets from patients with the Wiskott-Aldrich syndrome. J Biol Chem 266:6280

    Google Scholar 

  40. Hong R, Clement LT, Gatti RA, Kirkpatrick CH (1996) Disorders of the T cell system. In: Stiehm ER (ed) Immunologic disorders in infants and children. Saunders, Philadelphia, p 339

    Google Scholar 

  41. Kenney DM, Cairns L, Remold-O'Donnell E, Peterson J, Rosen FS, Parkman R (1986) Morphological abnormalities in the lymphocytes of patients with the Wiskott-Aldrich syndrome. Blood 68:1329

    Google Scholar 

  42. Kildeberg P (1961) The Aldrich syndrome: report of a case and discussion of pathogenesis. Pediatrics 27:362

    Google Scholar 

  43. Kolluri R, Shehabeldin A, Peacocke M, Lamhonwah AM, Teichert-Kuliszewska K, Weissman SM, Siminovitch KA (1995) Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus. Hum Mol Genet 4:1119

    Google Scholar 

  44. Kolluri R, Tolias KF, Carpenter CL, Rosen FS, Kirchhausen T (1996) Direct interaction of the Wiskott-Aldrich syndrome protein with the GTPase Cdc42. Proc Natl Acad Sci USA 93:5615

    Google Scholar 

  45. Kondoh T, Hayashi K, Mastumoto T, Yoshimoto M, Morio T, Yata J, Tsuji Y (1995) Two sisters with clinical diagnosis of Wiskott-Aldrich syndrome: is the condition in the family autosomal recessive? Am J Med Genet 60:364

    Google Scholar 

  46. Krivit W, Good RA (1959) Aldrich's syndrome (thrombocytopenia, eczema, and infection in infants). Am J Dis Child 97:137

    Google Scholar 

  47. Krivit W, Yunis E, White JG (1966) Platelet survival studies in Aldrich syndrome. Pediatrics 37:339

    Google Scholar 

  48. Kupfer A, Swain SL, Janeway CAJ, Singer SJ (1986) The specific direct interaction of helper T cells and antigen-presenting B cells. Proc Natl Acad Sci USA 83:6080

    Google Scholar 

  49. Kuramoto A, Steiner M, Baldini MG (1970) Lack of platelet response to stimulation in the Wiskott-Aldrich syndrome. N Engl J Med 282:475

    Google Scholar 

  50. Kwan SP, Sandkuyl LA, Blaese M, Kunkel LM, Bruns G, Parmley R, Skarshaug S, Page DC, Ott J, Rosen FS (1988) Genetic mapping of the Wiskott-Aldrich syndrome with two highly-linked polymorphic DNA markers. Genomics 3:39

    Google Scholar 

  51. Kwan SP, Lehne T, Hagemann T, Lu B, Blaese M, Ochs H, Wedgwood R, Ott J, Craig IW, Rosen FS (1991) Localization of the gene for Wiskott-Aldrich syndrome between two flanking markers, TIMP and DXS255, on Xpl l.22-Xpl l.3. Genomics 10:29

    Google Scholar 

  52. Kwan SP, Hagemann TL, Blaese RM, Knutsen A, Rosen FS (1995) Scanning of the Wiskott-Aldrich syndrome (WAS) gene: identification of 18 novel alterations including a possible mutation hotspot at Arg86 resulting in thrombocytopenia, a mild WAS phenotype. Hum Mol Genet 4:1995

    Google Scholar 

  53. Kwan SP, Hagemann TL, Blaese RM, Rosen FS (1995) A high-resolution map of genes, microsatellite markers, and new dinucleotide repeats from UBE1 to the GATA locus in the region Xp11.23. Genomics 29:247

    Google Scholar 

  54. Kwan SP, Hagemann TL, Radtke BE, Blaese RM, Rosen FS (1995) Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene. Proc Natl Acad Sci USA 92:4706

    Google Scholar 

  55. Lamarche N, Tapon N, Stowers L, Burbelo PD, Aspenström P, Bridges T, Chant J, Hall A (1996) Rac and cdc42 induce actin polymerization and G1 cell cycle progression independently of p65PAK and the JNK/SAPK MAP kinase cascade. Cell 87:519

    Google Scholar 

  56. Lemmon MA, Ferguson KM, Schlessinger J (1996) PH domains: diverse sequences with a common fold recruit signaling molecules to the cell surface. Cell 85:621

    Google Scholar 

  57. Li R (1997) Bee1, a yeast protein with homology to Wiskott-Aldrich syndrome protein, is critical for the assembly of cortical actin cytoskeleton. J Cell Biol 136:649

    Google Scholar 

  58. Lin CY, Hsu HC (1984) Acute immune complex mediated glomerulonephritis in a Chinese girl with Wiskott-Aldrich syndrome variant. Ann Allergy 53:74

    Google Scholar 

  59. Litzman J, Jones A, Hann I, Chapel H, Strobel S, Morgan G (1996) Intravenous immunoglobulin, splenectomy, and antibiotic prophylaxis in Wiskott-Aldrich syndrome. Arch Dis Child 75:436

    Google Scholar 

  60. Lum LG, Tubergen DG, Corash L, Blaese RM (1980) Splenectomy in the management of the thrombocytopenia of the Wiskott-Aldrich syndrome. N Engl J Med 302:892

    Google Scholar 

  61. Miki H, Miura K, Takenawa T (1996) N-WASP, a novel actin-depolymerizing protein, regulates the cortical cytoskeletal rearrangement in a PIP2-dependent manner downstream of tyrosine kinases. EMBO J 15:5326

    Google Scholar 

  62. Miki H, Nonoyama S, Zhu Q, Aruffo A, Ochs HD, Takenawa T (1997) Tyrosine kinase signaling regulates Wiskott-Aldrich syndrome protein function, which is essential for megakaryocyte differentiation. Cell Growth Differ 8:195

    Google Scholar 

  63. Molina IJ, Kenney DM, Rosen FS, Remold-O'Donnell E (1992) T cell lines characterize events in the pathogenesis of the Wiskott-Aldrich syndrome. J Exp Med 176:867

    Google Scholar 

  64. Molina IJ, Sancho J, Terhorst C, Rosen FS, Remold-O'Donnell E (1993) T cells of patients with the Wiskott-Aldrich syndrome have a restricted defect in proliferative responses. J Immunol 151:4383

    Google Scholar 

  65. Mullen CA, Anderson KD, Blaese RM (1993) Splenectomy and/or bone marrow transplantation in the management of the Wiskott-Aldrich syndrome: long-term follow-up of 62 cases. Blood 82:2961

    Google Scholar 

  66. Murphy S, Oski FA, Naiman JL, Lusch CJ, Goldberg S, Gardner FH (1972) Platelet size and kinetics in hereditary and acquired thrombocytopenia. N Engl J Med 286:499

    Google Scholar 

  67. Nishida E, Maekawa S, Sakai H (1984) Cofilin, a protein in porcine brain that binds to actin filaments and inhibits their interactions with myosin and tropomyosin. Biochemistry 23:5307

    Google Scholar 

  68. Nonoyama S, Hollenbaugh D, Aruffo A, Ledbetter JA, Ochs HD (1993) B cell activation via CD40 is required for specific antibody production by antigen-stimulated human B cells. J Exp Med 178:1097

    Google Scholar 

  69. Notarangelo LD, Parolini O, Faustini R, Porteri V, Albertini A (1991) Presentation of Wiskott-Aldrich syndromes as isolated thrombocytopenia. Blood 77:1125

    Google Scholar 

  70. Ochs HD, Slichter SJ, Harker LA, Von Behrens WE, Clark RA, Wedgwood RJ (1980) The Wiskott-Aldrich syndrome: studies of lymphocytes, granulocytes, and platelets. Blood 55:243

    Google Scholar 

  71. O'Reilly RJ, Keever CA, Small TN, Brochstein J (1989) The use of HLA-non-identical T-cell depleted marrow transplants for correction of severe combined immunodeficiency disease. Immunodefic Rev 1:273

    Google Scholar 

  72. Ozsahin H, Le Deist F, Benkerrou M, Cavazzana-Calvo M, Gomez L, Griscelli C, Blanche S, Fischer A (1996) Bone marrow transplantation in 26 patients with Wiskott-Aldrich syndrome from a single center. J Pediatr 129:238

    Google Scholar 

  73. Park JK, Rosenstein YJ, Remold-O'Donnell E, Bierer BE, Rosen FS, Burakoff SJ (1991) Enhancement of T-cell activation by the CD43 molecule whose expression is defective in Wiskott-Aldrich syndrome. Nature 350:706

    Google Scholar 

  74. Parsey MV, Lewis GK (1993) Actin polymerization and pseudopod reorganization accompany antiCD3-induced growth arrest in Jurkat T cells. J Immunol 151:1881

    Google Scholar 

  75. Peacocke M, Siminovitch KA (1987) Linkage of the Wiskott-Aldrich syndrome with polymorphic DNA sequences from the human X chromosome. Proc Natl Acad Sci USA 84:3430

    Google Scholar 

  76. Pearson HA, Shulman NR, Oski FA, Eitzman DV (1966) Platelet survival in Wiskott-Aldrich syndrome. J Pediatr 68:754

    Google Scholar 

  77. Piller F, Le-Deist F, Weinberg KI, Parkman R, Fukuda M (1991) AlteredO-glycan synthesis in lymphocytes from patients with Wiskott-Aldrich syndrome. J Exp Med 173:1501

    Google Scholar 

  78. Prchal JT, Carroll AJ, Prchal JF, Crist WM, Skalka HW, Gealy WJ, Harley J, Malluh A (1980) Wiskott-Aldrich syndrome: cellular impairments and their implication for carrier detection. Blood 56:1048

    Google Scholar 

  79. Puck JM, Siminovitch KA, Poncz M, Greenberg CR, Rottem M, Conley ME (1990) Atypical presentation of Wiskott-Aldrich syndrome: diagnosis in two unrelated males based on studies of maternal T cell X chromosome inactivation [see comments]. Blood 75:2369

    Google Scholar 

  80. Ramesh N, Antón IM, Hartwig JH, Geha RS (1997) WIP, a protein associated with Wiskott-Aldrich syndrome protein, induces actin polymerization and redistribution in lymphoid cells. Proc Natl Acad Sci USA 94:14671

    Google Scholar 

  81. Remold-O'Donnell E, Kenney DM, Parkman R, Cairns L, Savage B, Rosen FS (1984) Characterization of a human lymphocyte surface sialoglycoprotein that is defective in Wiskott-Aldrich syndrome. J Exp Med 159:1705

    Google Scholar 

  82. Ribero-Lezcano OM, Marcilla A, Sameshima JH, Robbins KC (1995) Wiskott-Aldrich syndrome protein physically associates with Nck through Src homology 3 domains. Mol Cell Biol 15:5725

    Google Scholar 

  83. Rocca B, Bellacosa A, De Cristofaro R, Neri G, Della-Ventura M, Maggiano N, Rumi C, Landolfi R (1996) Wiskott-Aldrich syndrome: report of an autosomal dominant variant. Blood 87:4538

    Google Scholar 

  84. Rohrer J, Ribeiro RC, Auerbach AD, Mirro B, Conley ME (1996) Wiskott-Aldrich syndrome in a family with Fanconi anemia. J Pediatr 129:50

    Google Scholar 

  85. Rosenstein Y, Park JK, Hahn WC, Rosen FS, Bierer BE, Burakoff SJ (1991) CD43, a molecule defective in Wiskott-Aldrich syndrome, binds ICAM-1. Nature 354:233

    Google Scholar 

  86. Saraste M, Hyvönen M (1995) Pleckstrin homology domains: a fact file. Curr Opin Struct Biol 5:403

    Google Scholar 

  87. Schindelhauer D, Weiss M, Hellebrand H, Golla A, Hergersberg M, Seger R, Belohradsky BH, Meindl A (1996) Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product. Hum Genet 98:68

    Google Scholar 

  88. Schwartz M, Békàssy A, Donnér M, Hertel T, Hreidarson S, Kerndrup G, Stormorken H, Stokland T, Tranebjaerg L, Ørstavik KH, Skovby F (1996) Mutation spectrum in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia: identification of twelve different mutations in the WASP gene. Thromb Haemost 75:546

    Google Scholar 

  89. Schwarz K, Nonoyama S, Peitsch MC, et al. (1996) WASPbase: a database of WAS- and XLT causing mutations. Immunol Today 17:496

    Google Scholar 

  90. She H-Y, Rockow S, Tang J, Nishimura R, Skolink EY, Chen M, Margolis B, Li W (1997) Wiskott-Aldrich syndrome protein is associated with the adapter protein Grb2 and the epidermal growth factor receptor in living cells. Mol Biol Cell 8:1709

    Google Scholar 

  91. Silverman LB, Wong RC, Remold-O'Donnell E, Vercelli D, Sancho J, Terhorst C, Rosen F, Geha R, Chatila T (1989) Mechanism of mononuclear cell activation by an anti-CD43 (sialophorin) agonistic antibody. J Immunol 142:4194

    Google Scholar 

  92. Siminovitch KA, Greer WL, Novogrodsky A, Axelsson B, Somani AK, Peacocke M (1995) A diagnostic assay for the Wiskott-Aldrich syndrome and its variant forms. J Invest Med 43:159

    Google Scholar 

  93. Slichter SJ, Harker LA (1978) Thrombocytopenia: mechanisms and management of defects in platelet production. Clin Haematol 7:523

    Google Scholar 

  94. Sperling AI, Green JM, Mosley RL, Smith PL, DiPaolo RJ, Klein JR, Bluestone JA, Thompson CB (1995) CD43 is a murine T cell costimulatory receptor that functions independently of CD28. J Exp Med 182:139

    Google Scholar 

  95. Stormorken H, Hellum B, Egeland T, Abrahamsen TG, Hovig T (1991) X-linked thrombocytopenia and thrombocytopathia: attenuated Wiskott-Aldrich syndrome. Functional and morphological studies of platelets and lymphocytes. Thromb Haemost 65:300

    Google Scholar 

  96. Stowers L, Yelon D, Berg LJ, Chant J (1995) Regulation of the polarization of T cells toward antigenpresenting cells by Ras-related GTPase CDC42. Proc Natl Acad Sci USA 92:5027

    Google Scholar 

  97. Sullivan KE, Mullen CA, Blaese RM, Winkelstein JA (1994) A multi-institutional survey of the Wiskott-Aldrich syndrome. J Pediatr 125:876

    Google Scholar 

  98. Symons M, Derry JMJ, Karlak B, Jiang S, Lemahieu V, McCormick F, Francke U, Abo A (1996) Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization. Cell 84:723

    Google Scholar 

  99. Ten Bensel RW, Stadlan EM, Krivit W (1966) The development of malignancies in the course of the Aldrich syndrome. J Pediatr 68:761

    Google Scholar 

  100. Tornai I, Kiss A, Laczkó J (1989) Wiskott-Aldrich syndrome in a heterozygous carrier woman [Letter]. Eur J Haematol 42:501

    Google Scholar 

  101. Villa A, Notarangelo L, Macchi P, Mantuano E, Cavagni G, Brugnoni D, Strina D, Patrosso MC, Ramenghi U, Sacco MG, Ugazio A, Vezzoni P (1995) X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. Nat Genet 9:414

    Google Scholar 

  102. Wengler G, Gorlin JB, Williamson JM, Rosen FS, Bing DH (1995) Nonrandom inactivation of the X chromosome in early lineage hematopoietic cells in carriers of Wiskott-Aldrich syndrome. Blood 85:2471

    Google Scholar 

  103. Wengler GS, Notarangelo LD, Berardelli S, Pollonni G, Mella P, Fasth A, Ugazio AG, Parolini O (1995) High prevalence of nonsense, frame shift, and splice-site mutations in 16 patients with fullblown Wiskott-Aldrich syndrome. Blood 86:3648

    Google Scholar 

  104. Wiskott A (1937) Familiärer, angeborener Morbus Werlhofü? Monatsschr Kinderheilkd 68:212

    Google Scholar 

  105. Wolff JA (1967) Wiskott-Aldrich syndrome: clinical, immunologic, and pathologic observations. J Pediatr 70:221

    Google Scholar 

  106. Yu H, Chen JK, Feng S, Dalgarno DC, Brauer AW, Schreiber SL (1994) Structural basis for the binding of proline-rich peptides to SH3 domains. Cell 76:933

    Google Scholar 

  107. Zhu Q, Zhang M, Blaese RM, Derry JMJ, Junket A, Francke U, Chen SH, Ochs HD (1995) The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene. Blood 86:3797

    Google Scholar 

  108. Zhu Q, Watanabe C, Liu T, Hollenbaugh D, Blaese RM, Kanner SB, Aruffo A, Ochs HD (1997) Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP mutations, protein expression, and phenotype. Blood 90:2680

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Pediatrics, University of Washington School of Medicine, Box 356320, 98195-6320, Seattle, WA, USA

    Hans D. Ochs

Authors
  1. Hans D. Ochs
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Ochs, H.D. The Wiskott-Aldrich syndrome. Springer Semin Immunopathol 19, 435–458 (1998). https://doi.org/10.1007/BF00792601

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00792601

Keywords

Search

Navigation