Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells
Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells
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DOI：
10.1056/nejm199611213352104
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发表时间：
1996-11-21
影响因子：
158.5
通讯作者：
Basile, GD
中科院分区：
文献类型：
--
作者：
Stephan, V;Wahn, V;Basile, GD
X-连锁严重联合免疫缺陷是一种隐性遗传性疾病，其特征是在出生后的最初几个月开始出现严重和持续的感染，并与腹泻和发育不良有关。1受影响的婴儿几乎总是表现为T细胞和自然杀伤细胞缺乏，B细胞计数正常或升高，以及低丙种球蛋白血症。这种疾病在没有骨髓移植的情况下是迅速致命的。2该疾病的基因位点已被定位于Xq 12 -13，3遗传缺陷被确定为白细胞介素-2受体γ链的突变，4该基因已被克隆，最近被重新命名为普通γ（γc）链，因为..... .
X-linked severe combined immunodeficiency is a recessive hereditary disease characterized by severe and persistent infections starting in the first months of life and associated with diarrhea and failure to thrive.1Affected infants almost invariably present with an absence of T cells and natural killer cells, normal or elevated B-cell counts, and hypogammaglobulinemia. This disease is rapidly fatal without bone marrow transplantation.2The disease locus has been mapped to Xq12–13,3and the genetic defect identified as a mutation of the γ chain of the interleukin-2 receptor,4which has been cloned and was recently renamed the common γ (γc) chain because of . . .