Wiskott-Aldrich syndrome.
Wiskott-Aldrich syndrome (WAS) is an X-linked immunodeficiency characterized by thrombocytopenia with small platelets, eczema, recurrent infections, autoimmune disorders, IgA nephropathy, and an increased incidence of hematopoietic malignancies. The identification of the responsible gene, WASP (Wiskott-Aldrich Syndrome Protein), revealed clinical heterogeneity of the syndrome, and showed that X-linked thrombocytopenia without, or with only mild immunodeficiency and eczema, is also caused by mutations of WASP. The study of WASP and its mutations demonstrates how a single gene defect can cause multiple and complex clinical symptoms.
Nonoyama
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Department of Pediatrics, School of Medicine, Tokyo Medical and Dental University, 1-5-45, Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan. snonoyama.ped@tmd.ac.jp
Ochs
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HD
D000818:Animals; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications / Q000276:immunology; D014923:Wiskott-Aldrich Syndrome / Q000150:complications / Q000175:diagnosis / Q000276:immunology*