The Wiskott-Aldrich syndrome

Springer Seminars in Immunopathology

Volumn 19, Issue 4, 1998, Pages 435-458

  Ochs, Hans D ^a  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GUANOSINE TRIPHOSPHATASE; MEMBRANE PROTEIN; PROTEIN TYROSINE KINASE; SIALOGLYCOPROTEIN;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ATOPY; BLEEDING; CANCER; CELL LYSATE; CHROMOSOME MAP; CLINICAL FEATURE; DIARRHEA; ECZEMA; FEMALE; GENE EXPRESSION; GENE INSERTION; GENE LOCATION; GENE LOCUS; GENE MUTATION; GENE STRUCTURE; GENE THERAPY; GENOTYPE; HETEROZYGOTE DETECTION; HISTOPATHOLOGY; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; INFECTION COMPLICATION; MALE; MISSENSE MUTATION; MOUSE; NONHUMAN; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REVIEW; STEM CELL TRANSPLANTATION; THROMBOCYTE COUNT; THROMBOCYTOPENIA; WISKOTT ALDRICH SYNDROME;

AGE FACTORS; ANIMALS; BLOTTING, WESTERN; CHROMOSOME MAPPING; FEMALE; GENOTYPE; HUMANS; MALE; MICE; MUTATION; PHENOTYPE; PRENATAL DIAGNOSIS; PROTEINS; THROMBOCYTOPENIA; WISKOTT-ALDRICH SYNDROME; WISKOTT-ALDRICH SYNDROME PROTEIN;

EID: 0031939175     PISSN: 03444325     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF00792601     Document Type: Review

References (108)

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
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
3. Amaya CA, Dorantes S, Toro AH, Bello A, Cuellar J (1973) Attenuated form of Wiskott-Aldrich syndrome. J Pediatr 82:175
4. Amiet A (1963) Aldrich-Syndrom: Beobachtung zweier Fälle. Ann Paediatr 201:315
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
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
7. Baldini MG (1972) Nature of the platelet defect in the Wiskott-Aldrich syndrome. Ann N Y Acad Sci 201:437
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
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
10. Blaese RM, Strober W, Brown RS, Waldmann TA (1968) The Wiskott-Aldrich syndrome. A disorder with a possible detect in antigen processing or recognition. Lancet 1:1056
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
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
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
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
15. Canales L, Mauer AM (1967) Sex-linked hereditary thrombocytopenia as a variant of Wiskott-Aldrich syndrome. N Engl J Med 277:899
16. Chiaro JJ, Dharmkrong-at A, Bloom GE (1972) X-linked thrombocytopenic purpura. I. Clinical and genetic studies of a kindred. Am J Dis Child 123:565
17. Conley ME, Wang WC, Parolini O, Shapiro DN, Campana D, Siminovitch KA (1992) Atypical Wiskott-Aldrich syndrome in a girl. Blood 80:1264
18. Cooper MD, Chase HP, Lowman JT, Krivil W, Good RA (1968) Wiskott-Aldrich syndrome. An immunologic deficiency disease involving the afferent limb of immunity. Am J Med 44:499
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
20. Cotelingam JD, Witehsky FG, Hsu SM, Blaese RM, Jaffe ES (1985) Malignant lymphoma in patients with the Wiskott-Aldrich syndrome. Cancer Invest 3:515
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
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
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
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 II:1319
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
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
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
28. Fearon ER, Kohn DB, Winkelstein JA, Vogelstein B, Blaese RM (1988) Carrier detection in the Wiskott Aldrich syndrome. Blood 72:1735
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
30. Finan PM, Soames CJ, Wilson L, Nelson DL, Stewart DM, Truong O, Hsuan JJ, Kellie S (1996) Identification of regions of the Wiskolt-Aldrich syndrome protein responsible for association with selected Src homology 3 domains. J Biol Chem 271:26291
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 carrier. Lancet I:63
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 in O-glycosylation. Biochem Cell Biol 67:503
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
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, OATL1. Hum Genet 88:453
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
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
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
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 J 14:19
39. Higgins EA, Siminovitch KA, Zhuang DL, Brockhausen I, Dennis JW (1991) Aberrant O-linked oligosaccharide biosynthesis in lymphocytes and platelets from patients with the Wiskott-Aldrich syndrome. J Biol Chem 266:6280
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
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
42. Kildeberg P (1961) The Aldrich syndrome: report of a case and discussion of pathogenesis. Pediatrics 27:362
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
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
45. Kondoh T, Hayashi K, Masturnoto 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
46. Krivit W, Good RA (1959) Aldrich's syndrome (thrombocytopenia, eczema, and infection in infants). Am J Dis Child 97:1.37
47. Krivit W, Yunis E, White JG (1966) Platelet survival studies in Aldrich syndrome. Pediatrics 37:339
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
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
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
51. Kwan SP, Lehner 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 Xp11.22-Xp11.3. Genomics 10:29
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
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
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
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
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
57. Li R (1997) Bee1, a yeast protein with homology to Wiskott-Aktrich syndrome protein, is critical for the assembly of cortical actin cytoskeleton. J Cell Biol 136:649
58. Lin CY, Hsu HC (1984) Acute immune complex mediated glomerulonephritis in a Chinese girl with Wiskott-Aldrich syndrome variant. Ann Allergy 53:74
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
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
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
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
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
64. Molina IJ, Sancho J, Terhorst C, Rosen FS, Remold-O'Donnell F (1993) T cells of patients with the Wiskott-Aldrich syndrome have a restricted defect in proliferative responses. J Immunol 151:4383
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
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
67. Nishida E, Mackawa 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
68. Nonoyama S, Hollenhaugh D, Aruffo A, Ledbetter JA, Ochs HD (1993) B cell activation via CD40 is required for specific antibody production by antigen-simulated human B cells. J Exp Med 178:1097
69. Notarangelo LD, Parolini O, Faustini R, Porteri V, Albertini A (1991) Presentation of Wiskott-Aldrich syndromes as isolated thrombocytopenia. Blood 77:1125
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
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
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
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
74. Parsey MV, Lewis GK (1993) Actin polymerization and pseudopod reorganization accompany anti-CD3-induced growth arrest in Jurkat T cells. J Immunol 151:1881
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
76. Pearson HA, Shulman NR, Oski FA, Eitzman DV (1966) Platelet survival in Wiskott-Aldrich syndrome. J Pediatr 68:754
77. Piller F, Le-Deist F, Weinberg KI, Parkman R, Fukuda M (1991) Altered O-glycan synthesis in lymphocytes from patients with Wiskott-Aldrich syndrome. J Exp Med 173:1501
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
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
80. Ramesh N, Anton 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
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
82. Rivero-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
83. Rocca B, Bellacosa A, De Cristofaro R, Neri G, Delia-Ventura M, Maggiano N, Rumi C, Landolfi R (1996) Wiskott-Aldrich syndrome: report of an autosomal dominant variant. Blood 87:4538
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
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
86. Saraste M, Hyvönen M (1995) Pleckstrin homology domains: a fact file. Curr Opin Struct Biol 5:403
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
88. Schwartz M, Békàssy A, Donnér M, Hertel T, Hreidarson S, Kemdrup 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
89. Schwarz K, Nonoyama S, Peitsch MC, et al. (1996) WASPbase: a database of WAS- and XLT-causing mutations. Immunol Today 17:496
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
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
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
93. Slichter SJ, Harker LA (1978) Thrombocytopenia: mechanisms and management of defects in platelet production. Clin Haematol 7:523
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
95. Stormorken H, Helium 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
96. 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 USA 92:5027
97. Sullivan KE, Mullen CA, Blaese RM, Winkelstein JA (1994) A multi-institutional survey of the Wiskolt-Aldrich syndrome. J Pediatr 125:876
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
99. Ten Bensel RW, Stadlan EM, Krivit W (1966) The development of malignancies in the course of the Aldrich syndrome. J Pediatr 68:761
100. Tomai I, Kiss A, Laczkó J (1989) Wiskott-Aldrich syndrome in a heterozygous carrier woman [Letter]. Eur J Haematol 42:501
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
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
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 full-blown Wiskott-Aldrich syndrome. Blood 86:3648
104. Wiskott A (1937) Familiärer, angeborener Morbus Werlhofii? Monalsschr Kinderheilkd 68:212
105. Wolff JA (1967) Wiskott-Aldrich syndrome: clinical, immunologic, and pathologic observations. J Pediatr 70:221
106. Yu H, Chen JK, Feng S, Dalgamo DC, Brauer AW, Schreiber SL (1994) Structural basis for the binding of proline-rich peptides to SH3 domains. Cell 76:933
107. Zhu O, Zhang M, Blaese RM, Derry JMJ, Junker 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
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