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Identification of WASP mutations, mutation hotspots and genotype-phenotype disparities in 24 patients with the Wiskott-Aldrich syndrome

✍ Scribed by Wenda L. Greer; Amro Shehabeldin; Jerry Schulman; Anne Junker; K. A. Siminovitch


Book ID
111707217
Publisher
Springer
Year
1996
Tongue
English
Weight
40 KB
Volume
98
Category
Article
ISSN
0340-6717

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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