The main clinical features of the Wiskott–Aldrich syndrome,an X-linked immunodeficiency, are thrombocytopenia with smallplatelets, eczema, susceptibility to opportunistic and pyogenicinfections, and B-cell lymphomas associated with Epstein–Barrvirus. Scanning electron microscopy has revealed that the lymphocytesand platelets of affected boys have a deranged cytoskeleton.The genetic basis of the disease is a mutation in the gene forthe Wiskott–Aldrich syndrome protein (WASP), which resultsin a defective WASP. WASP is found only in blood cells. WASPand several related proteins (the WASP family)1 are all involvedin the organization of the actin cytoskeleton. The study ofthis . . . [Full Text of this Article]
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From Massachusetts General Hospital (S.B.S.); the Center for Blood Research (F.S.R.); and the Departments of Medicine (S.B.S.) and Pediatrics (F.S.R.), Harvard Medical School — all in Boston.
Address reprint requests to Dr. Snapper at Massachusetts General Hospital, Gastrointestinal Unit, J706, 55 Blossom St., Boston, MA 02114, or at ssnapper@hms.harvard.edu.
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