Wiskott-Aldrich syndrome: Current research concepts

British Journal of Haematology

Volumn 101, Issue 4, 1998, Pages 603-608

  Brickell, P M ^a   Katz, David R ^b   Thrasher, Adrian J ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

Author keywords

Cell motility; Cytoskeleton; Dendritic cell; Signal transduction; WASP; Wiskott Aldrich syndrome

Indexed keywords

CLINICAL EXAMINATION; CLINICAL RESEARCH; GENE MUTATION; HUMAN; PRIORITY JOURNAL; PROTEIN ANALYSIS; REVIEW; WISKOTT ALDRICH SYNDROME;

EID: 0031831417     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.1998.00756.x     Document Type: Review

References (43)

1. Allen, W.E., Jones, G.E., Pollard, J.W. & Ridley, A.J. (1997) Rho, Rac and Cdc42 regulate actin organization and cell adhesion in macrophages. Journal of Cell Science. 110, 707-720.
2. Arcaro, A. (1998) The small GTP-binding protein Rac promotes the dissociation of gelsolin from actin filaments in neutrophils. Journal of Biological Chemistry 273, 805-813.
3. 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. Current Biology, 6, 70-75.
4. Banin, S., Truong, O., Katz, D.R., Waterfleld, M.D., Brickell, P.M. & Gout, I. (1996) Wiskott-Aldrich syndrome protein (WASp) is a binding partner for c-Src family protein-tyrosine kinases. Current Biology 6, 981-988.
5. Bohuslav, J., Horejsi, V., Hansmann, C., Stockl, J., Weidle, U.H., Majdic, O., Bartke, I., Knapp, W. & Stockinger, H. (1995) Urokinase plasminogen activator receptor, beta 2-integrins, and Src-kinases with a single receptor complex of human monocytes. Journal of Experimental Medicine, 181, 1381-1390.
6. c-src expression for osteoclasts to form ruffled borders and resorb bone in mice. Journal of Clinical Investigation, 90, 1622-1627.
7. Brickell, P.M. (1996) Receptor and non-receptor protein-tyrosine kinases. Protein Phosphorylation in Cell Growth Regulation (ed. by M. J. Clemens), pp. 19-57. Harwood Academic Publishers, Amsterdam.
8. Chan, A.C., Desai, D.M. & Weiss, A. (1994) The role of protein tyrosine kinases and protein tyrosine phosphatases in T cell antigen receptor signal transduction. Annual Review of Immunology, 12, 555-592.
9. Cohen, G.B., Ren, R. & Baltimore, D. (1995) Molecular binding domains in signal transduction proteins. Cell, 80, 237-248.
10. Condeelis, J. (1993) Life at the leading edge: the formation of cell protrusions. Annual Review of Cell Biology, 9, 411-444.
11. Corash, L., Shafer, B. & Blaese, R.M. (1985) Platelet-associated immunoglobulin, platelet size and the effect of splenectomy in the Wiskott-Aldrich syndrome. Blood, 65, 1439-1443.
12. Cory, G.O.C., MacCarthy-Morrogh, L., Banin, S., Gout, I., Brickell, P., Levinsky, R.J., Kinnon, C. & Lovering, R.C. (1996) Evidence that Wiskott Aldrich syndrome protein may be involved in lymphoid cell signalling pathways. Journal of Immunology, 157, 3791-3795.
13. Derry, J.M., Ochs, H.D. & Francke, U. (1994) Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell, 78, 635-644.
14. Finan, P.M., Soames, C.J., Wilson, L., Nelson, D.L., Stewart, D.M., Truong, O., Hsuan, J.J. & Kellie, S. (1996) Identification of regions of the Wiskott-Aldrich syndrome protein responsible for association with selected Src homology 3 domains. Journal of Biological Chemistry, 271, 26291-26295.
15. Galego, M.D., Santamaria, M., Pena, J. & Molina, I.J. (1997) Defective actin reorganisation and polymerisation of Wiskott-Aldrich T colls in response to CD3-mediated stimulation. Blood, 90, 3089-3097.
16. Ibrahim, M.A., Chain, B.M. & Katz, D.R. (1995) The injured cell: the role of dendritic cell system us a sentinel receptor pathway. Immunology Today, 16, 181-186.
17. Kolluri, R., Tolias, K.F., Carpenter, C.L, Rosen, F.S. & Kirchhausen, T. (1996) Direct interaction of the Wiskott-Aldrich syndrome protein with the GTPase Cdc42. Proceedings of the National Academy of Sciences of the United States of America, 93, 5615-5618.
18. Lauffenberger, D.A. & Horwitz, A.F. (1996) Cell migration: a physically integrated molecular process. Cell 84, 359-369.
19. Lu, M., Witke, W., Kwiatkowski, D.J. & Kosik, K.S. (1997) Delayed retraction of filopodia in gelsolin null mice. Journal of Cell Biology, 138, 1279-1287.
20. 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, 5326-5335.
21. Miki, H., Nonoyama, S., Zhu, Q., Aruffo, A., Ochs, H.D., & Takenawa, T. (1997) Tyrosine kinase signaling regulates Wiskott-Aldrich syndrome protein function, which is essential for megakaryocyte differentiation. Cell Growth and Differentiation, 8, 195-202.
22. Miki, H., Sasaki, T., Takai, Y. & Takenawa, T. (1998) Induction of filopodium formation by a WASP-related actin-depolymerizing protein N-WASP. Nature, 391, 93-96.
23. Mullen, C.A., Anderson, K.D. & Blaese, R.M. (1995) Splenectomy and/or bone marrow transplantation in the management of the Wiskott-Aldrich syndrome: long-term follow-up of 62 cases. Blood, 82, 2961-2966.
24. Parolini, O., Berardelli, S., Riedi, E., Bello-Fernandez, C., Strobl, H., Majdic, O. & Knapp, W. (1997) Expression of Wiskott-Aldrich syndrome protein (WASP) gene during hematopoietic differentiation. Blood, 90, 70-75.
25. Parolini, O., Ressmann, G., Haas, O.A., Pawlowsky, J., Gadner, H., Knapp, W. & Holter, W. (1998) X-linked Wiskott-Aldrich syndrome in a girl. New England Journal of Medicine, 338, 291-295.
26. Pleiman, C.M., D'Amhrosio, D. & Cambier, J.C. (1994) The B-cell antigen receptor complex: structure and signal transduction. Immunology Today, 15, 393-399.
27. Ramesh, N., Antón, I.M., Hartwig, J.H. & Geha, R.S. (1997) WIP, a protein associated with Wiskott-Aldrich syndrome protein, induces actin polymerization and redistribution in lymphoid cells. Proceedings of the National Academy of Sciences of the United Sates of America, 94, 14671-14676.
28. Remold-O'Donnell, E., Cooley, J., Shcherbina, A., Hagemann, T.L., Kwan, S.P., Kenney, D.M. & Rosen, E.S. (1997) Variable expression of WASP in B cell lines of Wiskott-Aldrich syndrome patients. Journal of Immunology 158, 4021-4025.
29. Remold-O'Donnell, E., Rosen, F.S. & Kenney, D.M. (1996) Defects in Wiskott-Aldrich syndrome blood cells. Blood, 87, 2621-2631.
30. Rivero-Lezcano, O.M., Marcilla, A., Sameshinia, J.H. & Robbins, K.C. (1995) Wiskott-Aldrich Syndrome Protein physically associates with Nek through Src homology 3 domains. Molecular and Cell Biology, 15, 5725-5731.
31. Sallusto, F. & Lanzavecchia, A. (1994) Efficient presentation of soluble antigen by cultured human dendritic cells is maintained by granulocyte/macrophage colony-stimulated factor plus interleukin 4 and downregulated by tumor necrosis factor alpha. Journal of Experimental Medicine, 179, 1109-1118.
32. Schwarz, K. (1996) WASPbase: a database of WAS and XLT-causing mutations. Immunolgy Today, 17, 496-502.
33. Semple, J.W, Siminovitch, K.A., Mody, M., Milev, Y., Lazarus, A.H., Fraser Wright, J. & Freedman, J. (1997) Flow cytometric analysis of platelets from children with the Wiskott-Aldrich syndrome reveals defects in platelet development, activation and structure. British Journal of Haematology, 97, 747-754.
34. Steinman, R.M, (1991) The dendritic cell and its role in immunogenicity. Annual Review of Immunology, 9, 271-296.
35. Stowers, L., Yelon, D., Berg, L.J. & Chant, J, (1995) Regulation of the polarisation of T cells toward antigen-presenting cells by Rasrelated GTP-ase CDC42. Proceedings of the National Academy of Sciences of the United States of America, 92, 5027-5031.
36. Sullivan, K.E., Mullen, C.A., Blaese, R.M, & Winkelstein, J.A. (1994) A multi-institutional survey of the Wiskott-Aldrich syndrome. Journal of Pediatrics, 125, 876-885.
37. Symons, M., Derry, J.M.J., Kariak, 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, 723-734.
38. Thomas, S.M., Soriano, P. & Imamoto, A. (1995) Specific and redundant roles of Src and Fyn in organizing the cytoskeleton. Nature, 376, 267-271.
39. Wengler, G., Gorlin, J.B., Williamson, J.M., Rosen, F.S. & Bing, D.H. (1995) Nonrandom inactivation of the X chromosome in early lineage hematopoietic cells in carriers of Wiskott-Aldrich syndrome. Blood, 85, 2471-2477.
40. Witke, W., Sharpe, A.H., Hartwig, J.H., Azuma, T., Stossel, T.P. & Kwiatkowski, D.J. (1995) Hemostatic, inflammatory, and fibroblast responses are blunted in mice lacking gelsolin. Cell, 81, 41-51.
41. Zhu, Q., Watanabe, C., Liu, T., Hollenbaugh, D., Blaese, R.M., Kanner, S.B., Aruffo, A. & Ochs, H.D. (1997) Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression and phenotypes. Blood, 90, 2680-2689.
42. Zicha, D., Allen, W.E., Brickell, P.M., Kinnon, C., Dunn, G.A., Jones, G.E. & Thrasher, A.J. (1998) Chemotaxis of macrophages is abolished in the Wiskott-Aldrich syndrome. British Journal of Haematology, 101, 659-665.
43. Zicha, D., Dunn, G.A, & Jones, G.E. (1997) Analysing chemotaxis using the Dunn direct-viewing chamber. Methods in Molecular Biology (ed. by J. W. Pollard), Volume 75. pp. 449-457. Humana Press, New Jersey.