The thrombocytopenia of Wiskott Aldrich syndrome is not related to a defect in proplatelet formation

Blood

Volumn 94, Issue 2, 1999, Pages 509-518

  Haddad, Elie ^a   Cramer, Elisabeth ^b   Rivière, Christel ^b   Rameau, Philippe ^b   Louache, Fawzia ^b   Guichard, Josette ^b   Nelson, David L ^b   Fischer, Alain ^b   Vainchenker, William ^b   Debili, Najet ^b  

^a INSERM   (France)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN; CD34 ANTIGEN; CYTOKINE; F ACTIN; PROTEIN; STROMA DERIVED FACTOR 1ALPHA; THROMBIN; UNCLASSIFIED DRUG;

ARTICLE; CELL MIGRATION; CELL ULTRASTRUCTURE; CLINICAL ARTICLE; CONTROLLED STUDY; CYTOSKELETON; HUMAN; HUMAN CELL; MEGAKARYOCYTE; MEGAKARYOPOIESIS; PRIORITY JOURNAL; THROMBOCYTOPENIA; THROMBOCYTOPOIESIS; WISKOTT ALDRICH SYNDROME; X CHROMOSOME LINKED DISORDER;

EID: 0033566292     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v94.2.509.414k09_509_518     Document Type: Article

References (47)

1. Wiskott A: Familiärer, angeborener morbus Werlhofii? Monatschrift Kinderheil 68:212, 1936
2. Aldrich R, Steinberg A, Campbell D: Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. Pediatrics 13:133, 1954
3. Ochs H, Slichter S, Herker L, Von Behrens W, Clark R, Wedgwood R: The Wiskott-Aldrich syndrome: Studies of lymphocytes, granulocytes and platelets. Blood 55:243, 1980
4. Canales M, Mauer A: Sex-linked hereditary thrombocytopenia as a variant of Wiskott-Aldrich syndrome. N Engl J Med 277:899, 1967
5. Notarangelo N, Parolini O, Faustini R, Porteri V, Albertini A: Presentation of Wiskott-Aldrich syndromes as isolated thrombocytopenia. Blood 77:1125, 1991
6. Derry J, Ochs H, Francke U: Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell 78:635, 1994
7. Derry J, Kerns J, Weinberg K, Ochs H, Volpini V, Estivill X, Walker A, Francke U: WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. Hum Mol Genet 4:1127, 1995
8. Kolluri R, Shehabeldin A, Peacocke M, Lamhonwah A, Teichert-Kuliszewska K, Weissman S, Siminovitch K: 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
9. Villa A, Notarangelo L, Macchi P, Mantuano E, Cavagni G, Brugnoni D, Strina D, Patrosso M, Ramenghi U, Sacco M, 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
10. 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
11. Kolluri R, Tolias K, Carpenter C, Rosen F, Kirchhausen T: Direct interaction of the Wiskott-Aldrich syndrome protein with the GTPase Cdc42. Proc Natl Acad Sci USA 93:5615, 1996
12. Symons M, Derry J, 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
13. Miki H, Miura K, Takenawa T: N-WASP, a novel actindepolymerizing protein, regulates the cortical cytoskeleton rearrangement in a PIP2-dependent manner downstream of tyrosine kinases. EMBO J 15:5326, 1996
14. Rivero-Lezcano O, Macilla A, Sameshima J, Robbins K: Wiskott-Aldrich syndrome protein physically associates with Nck through Src Homology domains. Mol Cell Biol 15:5725, 1995
15. Banin S, Truong O, katz D, Waterfield M, Brickell P, Gout I: Wiskott-Aldrich syndrome protein (WASp) is a binding partner for the c-Src family protein-tyrosine kinases. Curr Biol 6:981, 1996
16. Finan P, Soames C, Wilson L, Nelson D, Stewart D, Truong O, Hsuan J, 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
17. Lum L, Tubergen D, Corash L, Blaese R: Splenectomy in the management of the thrombocytopenia of the Wiskott-Aldrich syndrome. N Engl J Med 302:892, 1980
18. Corash L, Shafer B, Blaese R: Platelet-associated immunoglobulin, platelet size, and the effect of splenectomy in the Wiskott-Aldrich syndrome. Blood 65:1439, 1985
19. Gröttum K, Hovig T, Holmsen H, Abrahamsen A, Jeremic M, Seip M: Wiskott-Aldrich syndrome: Qualitative platelet defects and short platelet survival. Br J Haematol 17:373, 1969
20. Ochs H: The Wiskott-Aldrich syndrome. Springer Semin Immunopathol 19:435, 1998
21. Miki H, Nonoyama S, Zhu Q, Aruffo A, Ochs H, Takenawa T: Tyrosine kinase signaling regulates Wiskott-Aldrich syndrome protein function, which is essential for megakaryocyte differentiation. Cell Growth Differ 8:195, 1997
22. Tavassoli M, Aoki M: Migration of entire megakaryocyte through the marrow-blood barrier. Br J Haematol 48:25, 1981
23. Cunningham J, Meyer S, Fox J: The cytoplasmic domain of the alpha-subunit of glycoprotein (GP) Ib mediates attachment of the entire GP Ib-IX complex to the cytoskeleton and regulates von Willebrand factor-induced changes in cell morphology. J Biol Chem 271:11581, 1996
24. Cramer E, Norol F, Guichard J, Breton-Gorius J, Vainchenker W, Debili N: Ultrastructure of platelet formation by human megakaryocytes cultured with the Mpl Ligand. Blood 89:2336, 1997
25. Debili N, Wendung F, Katz A, Guichard J, Breton-Gorius J, Hunt P, Vainchenker W: The Mpl-Ligand, or thrombopoietin or megakaryocyte growth and differentiative factor has both direct proliferative and differentiative activities on human megakaryocyte progenitors. Blood 86:2516, 1995
26. Stewart D, Treiber-Held S, Kurman C, Facchetti F, Notarangelo L, Nelson D: Studies of the expression of the Wiskott-Aldrich syndrome protein (WASP). J Clin Invest 97:2627, 1996
27. Kuramoto A, Steiner M, Baldini M: Lack of platelet response to stimulation in the Wiskott-Aldrich syndrome. N Engl J Med 282:475, 1971
28. Baldini M: Nature of the platelet defect in the Wiskott-Aldrich syndrome. Ann N Y Acad Sci 201:437, 1972
29. Remold-O'Donnell E, Rosen F, Kenney D: Defects in Wiskott-Aldrich syndrome blood cells. Blood 87:2621, 1996
30. Thiery JB, Bessis M: La genèse des plaquettes à partir des mégacaryocytes observés sur la cellule vivante. C R Acad Sci 242:290, 1956
31. Radley JM, Scurfield G: The mechanism of platelet release. Blood 56:996, 1980
32. Gallego M, Santamaria M, Pena J, Molina I: Defective actin reorganization and polymerization of Wiskott-Aldrich T cells in response to CD3-mediated stimulation. Blood 90:3089, 1997
33. Kozma R, Ahmed S, Best A, Lim L: The Ras-related protein Cdc42Hs and bradykinin promote formation of peripheral actin microspikes and filopodia in Swiss 3T3 fibroblasts. Mol Cell Biol 15:1942, 1995
34. Nobes C, Hall A: Rho, Rac, and Cdc42 GTPases regulate the assembly of multimolecular focal complexes associated with actin stress fibers, lamellipodia, and filopodia. Cell 81:53, 1995
35. Miki H, Sasaki T, Takai Y, Takenawa T: Induction of filopodium formation by a WASP-related actin-depolymerizing protein N-WASP. Nature 391:93, 1998
36. Schwartz K, Nonoyama S, Peitsch M, de Saint Basile G, Espanol T, Fasth A, Fischer A, Freitag K, Friedrich W, Fugmann S, Hossle H, Jones A, Kinnon C, Meindl A, Notarangelo L: WASPbase: A database of WAS-and XLT-causing mutations. Immunol Today 17:496, 1996
37. Zhu Q, Watanabe C, Liu T, Hollenbaugh D, Blaese R, Kanner S, Aruffo A, Ochs H: Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP mutations, protein expression, and phenotype. Blood 90:2680, 1997
38. MacCarthy-Morrogh L, Gaspar H, Wang Y, Katz F, Thompson L, Layton M, Jones A, Kinnon C: Absence of expression of the Wiskott-Aldrich syndrome protein in peripheral blood cells of Wiskott-Aldrich syndrome patients. Clin Immunol Immunopathol 88:22, 1998
39. Stenberg P, Barrie R, Pestina T, Steward S, Arnold J, Murti A, Hutson N, Jackson C: Prolonged bleeding time with defective platelet filopodia formation in the Wistar Furth rat. Blood 91:1599, 1998
40. Snapper S, Rosen F, Mizoguchi E, Cohen P, Khan W, Liu C, Hagemann T, Kwan S, Ferrini R, Davidson L, Bhan A, Alt F: Wiskott-Aldrich syndrome protein-deficient mice reveal a role for WASP in T but not B cell activation. Immunity 9:81, 1998
41. Zicha D, Allen W, Brickell P, Kinnon C, Dunn G, Jones G, Thrasher A: Chemotaxis of macrophages is abolished in the Wiskott-Aldrich syndrome. Br J Haematol 101:659, 1998
42. Badolato R, Sozzani S, Malacarne F, Bresiani S, Fiorini M, Borsatti A, Albertini A, Mantovani A, Ugazio A, Notarangelo L: Monocytes from Wiskott-Aldrich patients display reduced chemotaxis and lack of cell polarization in response to monocyte chemoattractant protein-1 and formyl-methionyl-leucyl-phenylalanine. J Immunol 161: 1026, 1998
43. Hamada T, Mohle R, Hesselgesser J, Hoxie J, Nachman R, Moore M, Rafii S: Transendothelial migration of megakaryocytes in response to stromal cell-derived factor 1 (SDF-1) enhances platelet formation. J Exp Med 188:539, 1998
44. Rivière C, Subra F, Cohen-Solal K, Cordette-Lagarde V, Letestu R, Auclair C, Vainchenker W, Louache F: Phenotypic and functional evidence for the expression of CXCR4 receptor during megakaryocytopoiesis. Blood 93:1511, 1999
45. Wang J, Liu Z, Groopman J: The alpha-chemokine receptor CXCR4 is expressed on the megakaryocytic lineage from progenitor to platelets and modulates migration and adhesion. Blood 92:756, 1998
46. Bleul C, Fuhlbrigge R, Casasnovas J, Aiuti A, Springer T: A highly efficacious lymphocyte chemoattractant, stromal cell-derived factor (SDF-1). J Exp Med 184:1101, 1996
47. Oda A, Ochs H, Drucker B, Ozaki K, Watanabe C, Handa M, Miyakawa Y, Ikeda Y: Collagen induces tyrosine phosphorylation of Wiskott-Aldrich syndrome protein in human platelets. Blood 92:1852, 1998