Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype

Blood

Volumn 90, Issue 7, 1997, Pages 2680-2689

  Zhu, Qili ^b   Watanabe, Chiaki ^b   Liu, Ting ^b   Hollenbaugh, Diane ^b   Blaese, R Michael ^b   Kanner, Steven B ^b   Aruffo, Alejandro ^b   Ochs, Hans D ^a  

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

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL ARTICLE; GENE MUTATION; HUMAN; HUMAN CELL; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SYNDROME X; THROMBOCYTOPENIA; WISKOTT ALDRICH SYNDROME;

EID: 0030804315     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v90.7.2680     Document Type: Article

References (45)

1. Wiskott A: Familiärer, angeborener Morbus Werlhofii? Monatsschr Kinderheilkd 68:212, 1937
2. Aldrich RA, Steinberg AG, Campbell DC: Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. Pediatrics 13:133, 1954
3. Cooper MD, Chase HP, Lowman JT, Krivit W, Good RA: Wiskott-Aldrich syndrome. An immunologic deficiency disease involving the afferent limb of immunity. Am J Med 44:499, 1968
4. Ochs HD, Slichter SJ, Harker LA, Von Behrens WE, Clark RA, Wedgwood RJ: The Wiskott-Aldrich syndrome: Studies of lymphocytes, granulocytes, and platelets. Blood 55:243, 1980
5. Sullivan KE, Mullen CA, Blaese RM, Winkelstein JA: A multi-institutional survey of the Wiskott-Aldrich syndrome. J Pediatr 125:876, 1994
6. Molina IJ, Sancho J, Terhorst C, Rosen FS, Remold-O'Donnell E: T cells of patients with the Wiskott-Aldrich syndrome have a restricted defect in proliferative responses. J Immunol 151:4383, 1993
7. Siminovitch KA, Greer WL, Novogrodsky A, Axelsson B, Somani AK, Peacocke M: A diagnostic assay for the Wiskott-Aldrich syndrome and its variant forms. J Invest Med 43:159, 1995
8. Canales L, Mauer AM: Sex-linked hereditary thrombocytopenia as a variant of Wiskott-Aldrich syndrome. N Engl J Med 277:899, 1967
9. Chiaro JJ, Dharmkrong-at A, Bloom GE: X-linked thrombocytopenic purpura. I. Clinical and genetic studies of a kindred. Am J Dis Child 123:565, 1972
10. Notarangelo LD, Parolini O, Albertini A, Duse M, Mazzolari E, Plebani A, Camerino G, Ugazio AG: Analysis of X-chromosome inactivation in X-linked immunodeficiency with hyper-IgM (HIGM1): Evidence for involvement of different hematopoietic cell lineages. Hum Genet 88:103, 1991
11. Stormorken H, Hellum B, Egeland T, Abrahamsen TG, Hovig T: X-linked thrombocytopenia and thrombocytopathia: Attenuated Wiskott-Aldrich syndrome. Functional and morphological studies of platelets and lymphocytes. Thromb Haemost 65:300, 1991
12. Donnér M, Schwartz M, Carlsson KU, Holmberg L: Hereditary X-linked thrombocytopenia maps to the same chromosomal region as the Wiskott-Aldrich syndrome. Blood 72:1849, 1988
13. Kwan SP, Lehner T, Hagemann T, Lu B, Blaese M, Ochs H, Wedgwood R, Ott J, Craig IW, Rosen FS: Localization of the gene for Wiskott-Aldrich syndrome between two flanking markers, TIMP and DXS255, on Xp11.22-Xp11.3. Genomics 10:29, 1991
14. Derry JMJ, Ochs HD, Francke U: Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. [Published erratum appears in Cell 79:922, 1994.] Cell 78:635, 1994
15. Villa A, Notarangelo L, Macchi P, Mantuano E, Cavagni G, Brugnoni D, Strina D, Patrosso MC, Ramenghi U, Sacco MG, Ugazio A, Vezzoni P: X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. Nat Genet 9:414, 1995
16. Rivero-Lezcano OM, Marcilla A, Sameshima JH, Robbins KC: Wiskott-Aldrich syndrome protein physically associates with Nck through Src homology 3 domains. Mol Cell Biol 15:5725, 1995
17. Stewart DM, Treiber-Held S, Kurman CC, Facchetti F, Notarangelo LD, Nelson DL: Studies of the expression of the Wiskott-Aldrich syndrome protein. J Clin Invest 97:2627, 1996
18. Remold-O'Donnell E, Cooley J, Shcherbina A, Hagemann TL, Kwan S-P, Kenney DM, Rosen FS: Variable expression of WASP in B cell lines of Wiskott-Aldrich syndrome patients. J Immunol 158:4021, 1997
19. Ochs HD, Zhu Q, Liu T, Watanabe C, Kanner SB, Hollenbaugh D, Aruffo A: Wiskott-Aldrich syndrome: The WAS protein, phenotype, and genotype, in Fasth A, Björkander J (eds): Progress in Immunodeficiency, vol. 6. Göteborg, Sweden, Elsevier, 1996
20. Yu H, Chen JK, Feng S, Dalgarno DC, Brauer AW, Schreiber SL: Structural basis for the binding of proline-rich peptides to SH3 domains. Cell 76:933, 1994
21. Banin S, Truong O, Katz DR, Waterfield MD, Brickell PM, Gout I: Wiskott-Aldrich syndrome protein (WASp) is a binding partner for c-Src family protein-tyrosine kinases. Curr Biol 6:981, 1996
22. Finan PM, Soames CJ, Wilson L, Nelson DL, Stewart DM, Truong O, Hsuan JJ, Kellie S: Identification of regions of the Wiskott-Aldrich syndrome protein responsible for association with selected Src homology 3 domains. J Biol Chem 271:26291, 1996
23. Cory GOC, MacCarthy-Morrogh L, Banin S, Gout I, Brickell PM, Levinsky RJ, Kinnon C, Lovering RC: Evidence that the Wiskott-Aldrich syndrome protein may be involved in lymphoid cell signaling pathways. J Immunol 157:3791, 1996
24. Bunnell SC, Henry PA, Kolluri R, Kirchhausen T, Rickles RJ, Berg LJ: Identification of Itk/Tsk Src homology 3 domain ligands. J Biol Chem 271:25646, 1996
25. Aspenström P, Lindberg U, Hall A: Two GTPases, cdc42 and rac, bind directly to a protein implicated in the immunodeficiency disorder Wiskott-Aldrich syndrome. Curr Biol 6:70, 1996
26. Kolluri R, Tolias KF, Carpenter CL, Rosen FS, Kirchhausen T: Direct interaction of the Wiskott-Aldrich syndrome protein with the GTPase Cdc42. Proc Natl Acad Sci USA 93:5615, 1996
27. Symons M, Derry JMJ, Karlak B, Jiang S, Lemahieu V, McCormick F, Francke U, Abo A: Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization. Cell 84:723, 1996
28. Zhu Q, Zhang M, Blaese RM, Derry JMJ, Junker A, Francke U, Chen SH, Ochs HD: The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene. Blood 86:3797, 1995
29. Levitt D, Ochs HD, Wedgwood RJ: Epstein-Barr virus-induced lymphoblastoid cell lines derived from the peripheral blood of patients with X-linked agammaglobulinemia can secrete IgM. J Clin Immunol 4:143, 1984
30. Zhu Q, Zhang M, Rawlings DJ, Vihinen M, Hagemann T, Saffran DC, Kwan SP, Nilsson L, Smith CIE, Witte ON, Chen S-H, Ochs HD: Deletion within the Src homology domain 3 of Bruton's tyrosine kinase resulting in X-linked agammaglobulinemia (XLA). J Exp Med 180:461, 1994
31. Sarkar G, Yoon H-S, Sommer SS: Dideoxy fingerprinting (ddF): A rapid and efficient screen for the presence of mutations. Genomics 13:441, 1992
32. Kwan SP, Hagemann TL, Blaese RM, Knutsen A, Rosen FS: 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, 1995
33. Kwan SP, Hagemannn TL, Radtke BE, Blaese RM, Rosen FS: 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, 1995
34. Derry JMJ, Kerns JA, Weinberg KI, Ochs HD, Volpini V, Estivill X, Walker AP, Francke U: WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. Hum Mol Genet 4:1127, 1995
35. de Saint-Basile G, Lagelouse RD, Lambert N, Schwarz K, Le Mareck B, Odent S, Schlegel N, Fischer A: Isolated X-linked thrombocytopenia in two unrelated families is associated with point mutations in the Wiskott-Aldrich syndrome protein gene. J Pediatr 129:56, 1996
36. Kolluri R, Shehabeldin A, Peacocke M, Lamhonwah AM, Teichert-Kuliszewska K, Weissman SM, Siminovitch KA: 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, 1995
37. Rohrer J, Ribeiro RC, Auerbach AD, Mirro B, Conley ME: Wiskott-Aldrich syndrome in a family with Fanconi anemia. J Pediatr 129:50, 1996
38. Schindelhauer D, Weiss M, Hellebrand H, Golla A, Hergersberg M, Seger R, Belohradsky BH, Meindl A: 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, 1996
39. Wengler GS, Notarangelo LD, Berardelli S, Pollonni G, Mella P, Fasth A, Ugazio AG, Parolini O: High prevalence of nonsense, frame shift, and splice-site mutations in 16 patients with full-blown Wiskott-Aldrich syndrome. Blood 86:3648, 1995
40. Schwarz K, Nonoyama S, Peitsch MC, de Saint Basile G, Espanol T, Fasth A, Fischer A, Freitag K, Friedrich W, Fugmann S, Hossle H-P, Jones A, Kinnon C, Meindl A, Notarangelo LD, Wechsler A, Weiss M, Ochs HD: WASPbase: A database of WAS-and XLT-causing mutations. Immunol Today 17:496, 1996
41. Miki H, Miura K, Takenawa T: 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, 1996
42. Parsey MV, Lewis GK: Actin polymerization and pseudopod reorganization accompany anti-CD3-induced growth arrest in Jurkat T cells. J Immunol 151:1881, 1993
43. Kupfer A, Swain SL, Janeway CAJ, Singer SJ: The specific direct interaction of helper T cells and antigen-presenting B cells. Proc Natl Acad Sci USA 83:6080, 1986
44. Stowers L, Yelon D, Berg LJ, Chant J: Regulation of the polarization of T cells toward antigen-presenting cells by Ras-related GTPase CDC42. Proc Natl Acad Sci USA 92:5027, 1995
45. Nonoyama S, Hollenbaugh D, Aruffo A, Ledbetter JA, Ochs HD: B cell activation via CD40 is required for specific antibody production by antigen-stimulated human B cells. J Exp Med 178:1097, 1993