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Wiskott–Aldrich syndrome protein and platelets
Author(s) -
Oda Atsushi,
Ochs Hans D.
Publication year - 2000
Publication title -
immunological reviews
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.839
H-Index - 223
eISSN - 1600-065X
pISSN - 0105-2896
DOI - 10.1034/j.1600-065x.2000.17808.x
Subject(s) - wiskott–aldrich syndrome , wiskott–aldrich syndrome protein , platelet , tyrosine phosphorylation , phenotype , phosphorylation , biology , immunology , mutation , immunodeficiency , gene , genetics , immune system , cell , cytoskeleton , actin cytoskeleton
Wiskott-Aldrich syndrome (WAS) and X-linked thrombocy topenia (XLT) are caused by mutations of the WAS protein (WASP) gene. The manifestations of the classic WAS phenotype consist of immunodeficiency, eczema and thrombocytopenia. However, thrombocytopenia and small platelets are the only consistent features of WAS and XLT. The exact mechanisms of the development of thrombocytopenia in patients with WAS or XLT are unknown. To date, platelets are the only primary cells in which inducible tyrosine phosphorylation of WASP has been consistently demonstrated. This review focuses on the recent progress in dissecting the causes of thrombocytopenia and the emerging understanding of WASP phosphorylation.