Abstract:The Wiskott-Aldrich Syndrome is a congenital X-linked immunodeficiency caused by mutations in the WASP gene. The most common clinical presentation is recurrent infection, eczema, and thrombocytopenia. Autoimmune disease occurs in as much as 70% of WAS patients. WASP functions to transmit and integrate signals that originate at the cell membrane and result in actin polymerization. The latter in turn augments signal transduction downstream of cell surface ligands such as the T-cell receptor and macrophage integr… Show more
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