The abnormal gene in X-linked lymphoproliferative syndrome
Department of Pediatrics; Program in Molecular Medicine
Medical Subject Headings
Carrier Proteins; Cloning, Molecular; *Genetic Linkage; Humans; *Intracellular Signaling Peptides and Proteins; Lymphoproliferative Disorders; Mutation; *X Chromosome; *src Homology Domains
Immunology and Infectious Disease | Pediatrics
The gene defect responsible for X-linked lymphoproliferative syndrome, SH2D1A (SH2-domain-containing gene 1A), was recently cloned. This gene encodes a small protein of 128 amino acids containing a single SH2 domain, which is thought to play an important role in signal transduction in activated T cells. The definition of SH2D1A protein function will provide insight into the pathogenesis of fatal Epstein-Barr virus infection, lymphomas, Hodgkins disease, immunodeficiency, aplastic anemia and lymphohistiocytic disorders that characterize the syndrome.
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Citation: Curr Opin Immunol. 1999 Aug;11(4):431-4. Link to article on publisher's site