Recent advances in our understanding of Wiskott-Aldrich syndrome

Current Opinion in Hematology

Volumn 6, Issue 1, 1999, Pages 8-14

  Sullivan, Kathleen E ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN;

CELL FUNCTION; ECZEMA; EFFECTOR CELL; HUMAN; PHENOTYPE; PRIORITY JOURNAL; RECURRENT INFECTION; REVIEW; T LYMPHOCYTE; THROMBOCYTOPENIA; WISKOTT ALDRICH SYNDROME; X CHROMOSOME LINKAGE;

CLINICAL TRIALS; GENOTYPE; HUMANS; MUTATION; PHENOTYPE; PROTEINS; WISKOTT-ALDRICH SYNDROME; WISKOTT-ALDRICH SYNDROME PROTEIN;

EID: 0032904117     PISSN: 10656251     EISSN: None     Source Type: Journal    
DOI: 10.1097/00062752-199901000-00003     Document Type: Review

References (50)

1. 1 Perry GS, Spector BD, Schuman LM, Mandel JS, Anderson VE, McHugh RB, et al.: The Wiskott-Aldrich syndrome in the United States and Canada (1892-1979). J Pediatr 1980,97:72-78.
2. 2 Sullivan KE, Mullen CA, Blaese RM, Winkelstein JA: A multiinstitutional survey of the Wiskott-Aldrich syndrome. J Pediatr 1994, 125:876-885.
3. 3 Schindelhauer D, Weiss M, Hellebrand H, Golla A, Hergersberg M, Seger R, et al.: 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 1996, 98:68-76.
4. 4 Schwartz M, Bekassy A, Donner M, Hertel T, Hreidarson S, Kerndrup G, et al.: Mutation spectrum in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia: identification of twelve different mutations in the WASP gene. Thromb Haemostasis 1996, 75:546-550.
5. 5 Siminovitch KA, Greer WL, Novogrodsky A, Axelsson B, Somani A-K, Peacocks M: A diagnostic assay for the Wiskott-Aldrich syndrome and its variant forms. J Invest Med 1995, 43:159-169.
6. 6 Deny JM, Ochs HD, Francke U: Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell 1994, 78:635-644.
7. 7 Litzman J, Jones A, Hann I, Chapel H, Strobel S, Morgan G: Intravenous immunoglobulin, splenectomy, and antibiotic prophylaxis in Wiskott-Aldrich syndrome. Arch Dis Child 1996, 75:436-439.
8. 8 Mullen CA, Anderson KD, Blaese RM: Splenectomy and/or bone marrow transplanation in the management of Wiskott-Aldrich syndrome: long term follow-up of 62 cases. Blood 1993, 82:2961-2966.
9. 9 Ozsahin H, Le Deist F, Benkerrou M, Cavazzana-Calvo M, Gomez L, Griscelli C, et al.: Bone marrow transplantation in 26 patients with Wiskott-Aldrich syndrome from a single center. J Pediatr 1996, 129:238-244.
10. 10 Rimm IJ, Rappeport JM: Bone marrow transplantation for the Wiskott-Aldrich syndrome: long-term follow-up. Transplantation 1990, 50:617-620.
11. 11 Akman IO, Ostrov BE, Neudorf S: Autoimmune manifestations of the Wiskott-Aldrich syndrome. Semin Arthritis Rheum 1998, 27:218-225. Autoimmune disease and malignancy are among the most difficult complications of WAS. This article describes the authors' management strategy for two patients with WAS and provides a very thorough review of our understanding of autoimmune disease in WAS.
12. 12 Fischer A, Binet I, Oertli D, Bock A, and Thiel G: Fatal outcome of renal transplantation in a patient with the Wiskott-Aldrich syndrome. Nephrol Dial Transplantation 1996, 11:2077-2079.
13. 13 Matsushima T, Nakamura K, Oka T, Tachikawa N, Sata T, Murayama S, et al.: Unusual MRI and pathologic findings of progressive multifocal leukoencephalopathy complicating adult Wiskott-Aldrich syndrome. Neurology 1997, 48:279-282.
14. 14 Richter D, Hampl W, Pohlandt F: Vertical transmission of cytomegalovirus, most probably by breast milk, to an infant with Wiskott-Aldrich syndrome with fatal outcome. Eur J Pediatr 1997, 156:854-855. This article describes probable transmission of cytomegalovirus through breast milk, resulting in the death of an infant with WAS.
15. 15 Pratuangtham S, Bornstein SM, Boyer KM, McAuley JB, Deutsch TA, Gotoff SP: Treatment of acyclovir-resistant herpes simplex virus keratitis in a patient with Wiskott-Aldrich syndrome. Clin Infect Dis 1997, 25:1257-1258. The authors describe the successful use of foscarnet in the treatment of an acyclovir-resistant herpetic infection.
16. 16 Azuma H, Sakata H, Saijyou M, Okuno A: Effect of interleukin 2 on intractable herpes virus infection and chronic eczematoid dermatitis in a patient with Wiskott-Aldrich syndrome. Eur J Pediatr 1993, 152:998-1000.
17. 17 Parolini O, Ressmann G, Haas OA, Pawlowsky J, Gadner H, Knapp W, Holter W: X-linked Wiskott-Aldrich syndrome in a girl. N Engl J Med 1998, 338:291-295. This female child presented with classic manifestations of WAS and was found to be heterozygous for a mutation in WASP. Expression of the clinical phenotype apparently depended on a second mutation, which resulted in complete skewing of X-chromosome inactivation.
18. 18 Lasseur C, Allen AC, Deminiere C, Aparicio M, Feehally J, Combe C: Henoch-Schonlein purpura with immunoglobulin A nephropathy and abnormalities of immunoglobulin A in a Wiskott-Aldrich syndrome carrier. Am J Kidney Dis 1997, 29:285-287.
19. 19 Rocca B, Bellacosa A, De Cristofaro R, Neri G, Della Ventura M, Maggiano N, et al.: Wiskott-Aldrich syndrome: report of an autosomal dominant variant. Blood 1996, 87:4538-4543.
20. 20 Kondoh T, Matsumoto T, Tsuji Y: Wiskott-Aldrich syndrome in two sisters. Am J Med Genet 1997, 74:218-219.
21. 21 Semple JW, Siminovitch KA, Mody M, Milev Y, Lazarus AH, Wright JF, Freedman J: Flow cytometric analysis of platelets from children with the Wiskott-Aldrich syndrome reveals defects in platelet development, activation and structure. Br J Haematol 1997, 97:747-754.
22. 22 Higgins EA, Siminovitch KA, Zhuang D, Brockhausen I, Dennis JW: Aberrant O-linked oligosaccharide biosynthesis in lymphocytes and platelets from patinets with the Wiskott-Aldrich syndrome. J Biol Chem 1991, 266:6280-6290.
23. 23 Tsuboi S, Fukuda M: Branched O-linked oligosaccharides ectopically expressed in transgenic mice reduce primary T-cell immune responses. EMBO J 1997, 16:6364-6373. The inventive approach used by these authors allowed them to dissect the glycosylation effects of WASP mutations from the other manifestations and demonstrate that aberrant glycosylation by itself contributes to the immunodeficiency in WAS.
24. 24 Kawabata K, Nagasawa M, Morio T, Okawa H, Yata J: Decreased alpha/beta heterodimer among CD8 molecules of peripheral blood T cells in Wiskott-Aldrich syndrome. Clin Immunol Immunopathol 1996, 81:129-135.
25. 25 Gerwin N, Friedrich C, Perez-Atayde A, Rosen FS, Gutierrez-Ramos JC: Multiple antigens are altered on T and B lymphocytes from peripheral blood and spleen of patients with Wiskott-Aldrich syndrome. Clin Exp Immunol 1996, 106:208-217.
26. 26 Parolini O, Berardelli S, Riedl E, Bello-Fernandez C, Strobl H, Majdic O, Knapp W: Expression of Wiskott-Aldrich syndrome protein (WASP) gene during hematopoietic differentiation. Blood 1997, 90:70-75. This article describes the pattern of expression of WASP and RNA in a variety of hemotopoietic tissues and cell lineages.
27. 27 Fukuoka M, Miki H, Takenawa T: Identification of N-WASP homologs in human and rat brain. Gene 1997, 196:43-48.
28. 28 Gallego MD, Santamaria M, Pena J, Molina IJ: Defective actin reorganization and polymerization of Wiskott-Aldrich T cells in response to CD3-mediated stimulation. Blood 1997, 90:3089-3097. The electron microscopy in this article stunningly demonstrate the morphologic effects of WASP mutations. The authors also demonstrate defective actin polarization after CD3 engagement, which could play a role in the cellular immunodeficiency.
29. 29 Miki H, Sasaki T, Takai Y, Takenawa T: Induction of filopodium formation by a WASP-related actin-depolymerizing protein N-WASP. Nature 1998, 391:93-96. This manuscript begins to identify some of the disparate roles of N-WASP and WASP in actin reorganization. For example, N-WASP functions in filopodium formation, while WASP does not.
30. 30 Ponting CP, Phillips C: Identification of homer as a homologue of the Wiskott-Aldrich syndrome protein suggests a receptor-binding function for WH1 domains. J Molec Med 1997, 75:769-771.
31. 31 Miki H, Takenawa T: Direct binding of the verprolin-homology domain in N-WASP to actin is essential for cytoskeletal reorganization. Biochem Biophys Res Commun 1998, 243:73-78.
32. 32 Cory GO, MacCarthy-Morrogh L, Banin S, Gout I, Brickell PM, Levinsky RJ, et al.: Evidence that the Wiskott-Aldrich syndrome protein may be involved in lymphoid cell signaling pathways. J Immunol 1996, 157:3791-3795.
33. 33 She HY, Rockow S, Tang J, Nishimura R, Skolnik EY, Chen M, et al.: Wiskott-Aldrich syndrome protein is associated with the adapter protein Grb2 and the epidermal growth factor receptor in living cells. Molec Biol Cell 1997,8:1709-1721. Grb2 mediates the association of WASP with the epidermal growth factor receptor.
34. 34 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 1996, 84:723-734.
35. 35 Tang J, Feng GS, Li W: Induced direct binding of the adapter protein Nck to the GTPase-activating protein-associated protein p62 by epidermal growth factor. Oncogene 1997, 15:1823-1832. Nck is another adapter molecule that may act as an intermediary in the epidermal growth factor or platelet-derived growth factor signaling pathways.
36. 36 Wu Y, Spencer SD, Lasky LA: Tyrosine phosphorylation regulates the SH3-mediated binding of the Wiskott-Aldrich syndrome protein to PSTPIP, a cytoskeletal-associated protein. J Biol Chem 1998, 273:5765-5770. PSTPIP was found to associate with WASP and PTP HSCF depending on the phosphorylation state. This protein may function as an intermediary in the WASP responses to signal transduction.
37. 37 Lamarche N, Tapon N, Stowers L, Burbelo PD, Aspenstrom P, Bridges T, et al.: Rac and CDC42 induce actin polymerization and G1 cell cycle progression independently of p65PAK and the JNK/SAPK MAP kinase cascade. Cell 1996, 87:519-529.
38. 38 Ramesh N, Anton IM, Hartwig JH, Geha RS: WIP, a protein associated with Wiskott-Aldrich syndrome protein, induces actin polymerization and redistribution in lymphoid cells. Proc Natl Acad Sci U S A 1997, 94:14671-14676. The yeast 2 hybrid system was used to identify this protein, which associates with WASP. WIP binds WASP, actin, and profilin, and may be a key intermediary in WASP effects on cortical actin assembly.
39. 39 Li R: Bee1, a yeast protein with homology to Wiskott-Aldrich syndrome protein, is critical for the assembly of cortical actin cytoskeleton. J Cell Biol 1997, 136:649-658.
40. 40 Lechler T, and Li R: In vitro reconstitution of cortical actin assembly sites in budding yeast. J Cell Biol 1997, 138:95-103. Identification of the yeast homologue of WASP, Bee1, suggests that WASP plays a very fundamental role in cell biology. Bee1 is essential for cytokinesis and polarization in yeast and is regulated by various signaling pathways.
41. 41 Miki H, Nonoyama S, Zhu Q, Aruffo A, Ochs HD, Takenawa T: Tyrosine kinase signaling regulates Wiskott-Aldrich syndrome protein function, which is essential for megakaryocyte differentiation. Cell Growth Differ 1997, 8:195-202. This elegant study utilized an in vitro model of megakaryocyte differentiation to link signal transduction pathways involving Shc and WAS protein with differentiation.
42. 42 Zhu Q, Watanabe C, Liu T, Hollenbaugh D, Blaese RM, Kanner SB, et al.: Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype. Blood 1997, 90:2680-2689. Missense mutations in exons 1 through 3 were found to modestly affect protein production and to be associated with a mild clinical phenotype in this large study of patients with WAS.
43. 43 Remold ODE, Cooiey J, Shcherbina A, Hagemann TL, Kwan SP, Kenney DM, Rosen FS: Variable expression of WASP in B cell lines of Wiskott-Aldrich syndrome patients. J Immunol 1997, 158:4021-4025.
44. 44 Schwartz K: WASPbase: a database of WAS-and XLT-causing mutations. Immunol Today 1996, 17:496-502.
45. 45 Lappalainen I, Ollila J, Smith CI, Vihinen M: Registries of immunodeficiency patients and mutations. Hum Mutat 1997, 10:261-267.
46. 46 Ariga T, Yamada M, Pudua FR, Sakiyama Y: Detection of a novel splice-site mutation that results in skipping exon 3 of the WASP gene in a patient with Wiskott-Aldrich syndrome. Biochim Biophys Acta 1996, 1317:158-160.
47. 47 Ariga T, Yamada M, Ito S, Iwamura M, Iseki M, Sakiyama Y: Characterization of a deletion mutation involving exons 3-7 of the WASP gene detected in a patient with Wiskott-Aldrich syndrome. Hum Mutat 1997, 10:310-316.
48. 48 de Saint Basile G, Lagelouse RD, Lambert N, Schwarz K, Le Mareck B, Odent S, et al.: Isolated X-linked thrombocytopenia in two unrelated families is associated with point mutations in the Wiskott-Aldrich syndrome protein gene. J Pediatr 1996, 129:56-62.
49. 49 Greer WL, Shehabeldin A, Schulman J, Junker A, Siminovitch KA: Identification of WASP mutations, mutation hotspots and genotype-pheno-type disparities in 24 patients with the Wiskott-Aldrich syndrome. Hum Genet 1996, 98:685-690.
50. 50 Ariga T, Yamada M, Sakiyama Y: Mutation analysis of five Japanese families with Wiskott-Aldrich syndrome and determination of the family members' carrier status using three different methods. Pediatr Res 1997, 41:535-540.