Article
Lymphocytes Utilize Somatic Mutations, Epigenetic Silencing, and the Proteasome to Escape Truncated WASP Expression.
Journal of clinical immunology - 1 May 2022
Khanna Caroline, Le Coz Carole, Vaccaro Courtney, Pillarisetti Piyush, Knox Ainsley V C, Sy Andrew, Behrens Edward M, Buchbinder David, Romberg Neil
Abstract excerpt
Wiskott-Aldrich Syndrome Protein (WASP) deficiency causes Wiskott-Aldrich Syndrome (WAS), a sex-linked disorder characterized by combined immunodeficiency, microthrombocytopenia, and eczema. Like WASP-deficient humans, WASP-deficient mice produce normal numbers of functionally defective T cells. Here, we report a WAS patient with a novel germline frameshifting WAS mutation encoding a truncated form of WASP...
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