X-linked disorder of variable immunodeficiency and microthrombocytopenia

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WAS, an X-linked disorder of variable immunodeficiency and microthrombocytopenia, results from mutations in the WAS gene. The WAS gene encodes a large intracellular protein with several functional domains involved with cytoskeletal integrity and signal transduction. Several molecules reported to be associated with WAS are involved in normal progression through the cell cycle. WAS is expressed in cells of hematopoietic origin and in the thymus.Deficiency of this protein results in elevated levels of IgE and IgA, decreased IgG and/or IgM, poor responses to polysaccharide antigens, and waning T cell function.

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