The abnormal gene in X-linked lymphoproliferative syndrome

✍ Scribed by John L Sullivan

• Book ID: 104359113
• Publisher: Elsevier Science
• Year: 1999
• Tongue: English
• Weight: 439 KB
• Volume: 11
• Category: Article
• ISSN: 0952-7915
• DOI: 10.1016/s0952-7915(99)80072-7

✦ Synopsis

The abnormal gene in X-linked lymphoproliferative syndrome John L Sullivan The gene defect responsible for X-linked lymphoproliferative syndrome, SH2DlA (SH2-domain-containing gene 7A), 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 SH2DlA 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.