Wiskott-Aldrich syndrome
Definition:
The Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive immunodeficiency disorder, caused by mutations in the Wiskott-Aldrich syndrome protein (WASP) gene, and characterised by thrombocytopenia, small platelets, eczema, and recurrent infections associated with increased risk of autoimmunity and malignancy disorders. Recent research suggested that the WIPF1-encoded protein WIP binds to the region of WASP which is frequently mutated in patients with this disease, and WIP mutations themselves lead to an immunological disorder resembling Wiskott-Aldrich syndrome.
References:
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[1]. Gaetana Lanzi, et al. A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP. J Exp Med. 2012 Jan 16;209(1):29-34. [Content Brief]
[2]. J M Derry, et al. Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell. 1994 Aug 26;78(4):635-44. [Content Brief]
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