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A Novel WASP Gene Mutation in a Chinese Boy with Wiskott–Aldrich Syndrome

✍ Scribed by Wu, Hui; Hu, Cheng; Dang, Dan; Guo, Ying-Jie

Book ID
125380307
Publisher
Springer-Verlag
Year
2014
Tongue
English
Weight
314 KB
Volume
30
Category
Article
ISSN
0971-4502

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The Wiskott-Aldrich Syndrome (WAS) is an X-linked recessive immunodeficiency caused by mutation in the gene encoding WAS protein (WASP). The disease is characterized by eczema, thrombocytopenia and severe immunodeificency and is associated with extensive clinical heterogeneity. Mutation studies indi

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Mutation in the gene encoding the Wiskott-Aldrich Syndrome protein (WASP) has been identified as the genetic defect responsible for WAS, an X-linked primary immunodeficiency disease characterized by eczema, thrombocytopenia, and recurrent infections. In this study, the WASP gene of 7 unrelated patie