Article
Clinical and molecular characteristics of Wiskott-Aldrich Syndrome in five unrelated Chinese families.
Scandinavian journal of immunology - 1 Jan 2022
Jiang Jiali, Zhou Junli, Wei Manlv, Singh Sanjeev, Nikuze Lauriane, Huang Lifang, Li Yuping, Jiang Jinxia, Wei Hongying
Abstract excerpt
Wiskott-Aldrich syndrome (WAS) also called the eczema-thrombocytopenia-immunodeficiency syndrome is a primary immunodeficiency disease with X-linked recessive inheritance caused by mutations in the WAS protein (WASp) gene and characterized by thrombocytopenia with reduced platelet volume, eczema, immunodeficiency, and increased risk of malignant tumours. The mutations will lead to separate WAS severity which can...
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