Molecular and genetic basis of X-linked immunodeficiency disorders.
Molecular and genetic basis of X-linked immunodeficiency disorders.
复制标题
X连锁免疫缺陷病的分子和遗传基础。
DOI：
10.1007/bf01541340
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发表时间：
1994
影响因子：
9.1
通讯作者：
Puck,JM
中科院分区：
文献类型：
--
作者：
Puck,JM
在很短的时间间隔内，特异性基因缺陷导致三种X连锁人类免疫缺陷，无丙种球蛋白血症（XLA），高IgM综合征（HIGM），和严重联合免疫缺陷（XSCID），已被确定。这些代表了与已经被认为在淋巴细胞发育和信号传导中重要的三个基因家族中的每一个相关的第一种人类疾病表型：XLA是由B细胞特异性细胞内酪氨酸激酶的突变引起的; HIGM是由TNF相关的CD 40配体的突变引起的，通过该配体，T细胞通过与B细胞CD 40直接接触来传递辅助信号;和XSCID，由IL-2淋巴细胞受体γ链突变引起。迄今为止分析的每个患者突变都是独特的，这既是遗传诊断和管理的挑战，也是解剖分子结构域和了解基因产物生理功能的重要资源。
Within a short time interval the specific gene defects causing three X-linked human immunodeficiencies, agammaglobulinemia (XLA), hyper-IgM syndrome (HIGM), and severe combined immunodeficiency (XSCID), have been identified. These represent the first human disease phenotypes associated with each of three gene families already recognized to be important in lymphocyte development and signaling: XLA is caused by mutations of a B cell-specific intracellular tyrosine kinase; HIGM, by mutations in the TNF-related CD40 ligand, through which T cells deliver helper signals by direct contact with B cell CD40; and XSCID, by mutations in the γ chain of the lymphocyte receptor for IL-2. Each patient mutation analyzed to date has been unique, representing both a challenge for genetic diagnosis and management and an important resource for dissecting molecular domains and understanding the physiologic function of the gene products.