Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene
Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene
复制标题
DOI：
10.1038/2424
复制
发表时间：
1998-10-01
期刊：
影响因子：
30.8
通讯作者：
Bentley, DR
中科院分区：
文献类型：
--
作者：
Coffey, AJ;Brooksbank, RA;Bentley, DR
X连锁淋巴增殖综合征（XLP或邓肯病）的特征是对爱泼斯坦 - 巴尔病毒（EBV）极度敏感，导致出现一种复杂的表型，表现为严重或致命的传染性单核细胞增多症、获得性低丙种球蛋白血症和恶性淋巴瘤。我们已经确定了一个基因，SH2D1A，它在XLP患者中发生突变，并编码一种由单个SH2结构域组成的新型蛋白质。SH2D1A在许多参与免疫系统的组织中表达。SH2D1A的确定将有助于确定其作为EBV诱导的免疫反应的一种可能调节因子的作用机制。
X-linked lymphoproliferative syndrome (XLP or Duncan disease) is characterized by extreme sensitivity to Epstein-Barr virus (EBV), resulting in a complex phenotype manifested by severe or fatal infectious mononucleosis, acquired hypogammaglobulinemia and malignant lymphoma. We have identified a gene, SH2D1A, that is mutated in XLP patients and encodes a novel protein composed of a single SH2 domain. SH2D1A is expressed in many tissues involved in the immune system. The identification of SH2D1A will allow the determination of its mechanism of action as a possible regulator of the EBV-induced immune response.