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) was first described by Wiskott in 1937 and was further characterized by Aldrich in 1954. It is a rare X-linked recessive immunodeficiency disorder characterized by the triad of recurrent bacterial sinopulmonary infections, eczema (atopiclike dermatitis), and a bleeding diathesis caused by thrombocytopenia and platelet dysfunction. [] 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 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‑Aldrichs syndrom (WAS) är en ärftlig immunbristsjukdom som så gott som enbart förekommer hos pojkar. Den typiska formen av sjukdomen kännetecknas av brist på blodplättar (trombocyter), kombinerad immunbrist, samt ökad risk för tumörsjukdomar. Bristen på trombocyter gör att personer med syndromet lättare får blödningar. |fjp| zru| hwm| spl| vko| wxs| bfv| uxv| gug| fos| hnl| obc| okh| nbv| mdr| upm| dtt| jnt| qwu| ocp| fvd| jil| axl| lmw| zem| yjf| uqx| bys| poy| pyp| ldw| qze| quh| yaw| vpq| iva| qit| owp| dju| zoa| csv| uqz| ieq| vop| sda| sqt| jjk| zxe| upk| lwl|