Lessons from the Wiskott–Aldrich Syndrome

The Wiskott–Aldrich syndrome is a well-recognized triad of eczema, bleeding diathesis, and recurrent infections that occurs in boys. Although it is rare (with an estimated incidence of less than 1 in 100,000 births), the syndrome offers rich historical, clinical, and scientific lessons.In a typical case of severe Wiskott–Aldrich syndrome, petechiae (see figure), bruising, and bloody diarrhea may develop in the first days of life owing to thrombocytopenia with small platelets (low platelet volume). Unusually prolonged bleeding after circumcision often leads to the discovery of the thrombocytopenia. Eczema — which may be severe — ensues, and throughout childhood there may . . .