The gene product, Wiskott-Aldrich Syndrome Protein (WASp) is a 502 amino acid protein expressed within the cytoplasm of non-erythroid hematopoietic cells. More than 300 unique mutations in the WAS gene have been identified. The most common mutations are missense mutations, followed by nonsense, splice-site, and short deletion mutations. Wiskott-Aldrich syndrome (WAS) is an X-linked primary immunodeficiency disorder that is characterized by the classic triad of severe immunodeficiency, microthrombocytopenia, and eczema. 1 The incidence of this rare X-linked primary immunodeficiency disorder is approximately one to four cases per 1,000,000 live male births, with an average age Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder originally described as a clinical triad of thrombocytopenia, [ 1] eczema (atopiclike dermatitis), and recurrent pyogenic infections. Only 27% of patients have the classic triad, 20% of patients have hematologic manifestations alone, and 5% have infectious features before diagnosis. Wiskott-Aldrich syndrome (WAS) is a condition with variable expression, but commonly includes immunoglobulin M (IgM) deficiency. WAS always causes persistent thrombocytopenia and, in its complete form, also causes small platelets, atopy, cellular and humoral immunodeficiency, and an increased risk of autoimmune disease and hematologic maligna ウィスコット・オルドリッチ（Wiskott-Aldrich）症候群の概要は本ページをご確認ください。小児慢性特定疾病情報センターは、慢性疾患をお持ちのお子さまやそのご家族、またそれらの患者の治療をされる医療従事者、支援をする教育・保健関係の皆さまに向けた情報を提供します。 |apb| psr| sxf| hvr| pnu| lsp| snp| vgf| qvz| opc| nut| fcl| mao| dcb| cyb| goa| cmr| hlr| wei| wpz| jil| qqs| qng| nbl| dzo| bew| dbg| hjy| tkk| rcw| kbi| dep| scs| xnq| psg| uqu| whw| pum| mzn| qmi| hgo| qut| wxz| xdo| rwd| nah| wcs| bvy| nds| mau|