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The Wiskott–Aldrich syndrome is an X-linked hereditary disorder associated with combined immunodeficiency, thrombocytopenia, small platelets, eczema, and increased susceptibility to autoimmune disorders and cancers. It is caused by mutations in the gene (WAS) for the Wiskott–Aldrich syndrome protein (WASP). We investigated family members of the patients originally described by Wiskott in 1937 and identified a new frame shift mutation in exon 1 of WAS. This mutation is likely to be the hypothesized genotype that caused the severe form of the Wiskott–Aldrich syndrome in the three brothers described by Wiskott.
Source Information
From the Departments of Hematology and Oncology (V.B., M.H.A.) and Immunology and Infectious Diseases (B.H.B.), Dr. von Haunersches Children's Hospital, Ludwig Maximilians University; and the Department of Obstetrics and Gynecology, Klinikum rechts der Isar, Technical University Munich (M.B., A.M.) — both in Munich; and the Department of Pediatrics, Municipal Hospital Dresden–Neustadt, Academic Section of the Technical University Dresden, Dresden, Germany (M.K.).
Address reprint requests to Dr. Meindl, Department of Obstetrics and Gynecology, Klinikum rechts der Isar, Technical University Munich, Ismaninger Straße 22, D-81675 Munich, Germany, or at alfons.meindl{at}lrz.tu-muenchen.de.
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