X连锁淋巴增殖综合征中的异常基因。

The abnormal gene in X-linked lymphoproliferative syndrome.

作者信息

Sullivan J L

机构信息

Program in Molecular Medicine, University of Massachusetts Medical School, 373 Plantation Street, Biotech II, Suite 318, Worcester, MA 01605, USA.

出版信息

Curr Opin Immunol. 1999 Aug;11(4):431-4. doi: 10.1016/S0952-7915(99)80072-7.

DOI:10.1016/S0952-7915(99)80072-7

PMID:10448142

Abstract

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.

摘要

导致X连锁淋巴细胞增生综合征的基因缺陷——SH2D1A（含SH2结构域基因1A），最近已被克隆。该基因编码一种含128个氨基酸的小蛋白，其中含有一个单一的SH2结构域，该结构域被认为在活化T细胞的信号转导中起重要作用。SH2D1A蛋白功能的明确将有助于深入了解该综合征所特有的致命性EB病毒感染、淋巴瘤、霍奇金病、免疫缺陷、再生障碍性贫血和淋巴细胞组织细胞增生症的发病机制。