Genetic and clinical advances in Wiskott-Aldrich syndrome.
Wiskott-Aldrich syndrome is an immunodeficiency associated with thrombocytopenia, recurrent infections, eczema, and a predisposition to malignancy. Until this past year, the genetic defect was unknown, and our understanding of the disease was limited to defining the aberrant immunologic and hematologic functions in these patients. The identification of the genetic defect has already improved our understanding of the pathogenesis of this complex disease and has already resulted in the development of a more widely applicable prenatal diagnostic test. Other important developments this past year include the development of a diagnostic assay that should simplify the identification of Wiskott-Aldrich syndrome patients and a retrospective review that characterizes the natural history of the disease.
Sullivan
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Children's Hospital of Philadelphia, Pennsylvania, USA 19104-4318.
D002648:Child; D006801:Humans; D014923:Wiskott-Aldrich Syndrome / Q000235:genetics / Q000276:immunology / Q000503:physiopathology* / Q000628:therapy