INTERLEUKIN-2 RECEPTOR GAMMA CHAIN MUTATION RESULTS IN X-LINKED SEVERE COMBINED IMMUNODEFICIENCY IN HUMANS
INTERLEUKIN-2 RECEPTOR GAMMA CHAIN MUTATION RESULTS IN X-LINKED SEVERE COMBINED IMMUNODEFICIENCY IN HUMANS
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DOI：
10.1016/0092-8674(93)90167-o
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发表时间：
1993-04-09
期刊：
影响因子：
64.5
通讯作者：
LEONARD, WJ
中科院分区：
文献类型：
--
作者：
NOGUCHI, M;YI, HF;LEONARD, WJ
白细胞介素-2（IL-2）受体γ链（IL-2 R γ）是高亲和力和中等亲和力IL-2受体的组分，是实现完全配体结合亲和力和内化所需的。我们已经将IL-2 R γ基因定位于人类染色体Xq 13。 遗传连锁分析表明，IL-2 R γ基因和X连锁严重联合免疫缺陷（XSCID）的位点似乎在同一位置。此外，我们证明了三个无关的XSCID患者中的每一个都有不同的IL-2 R γ基因突变，导致不同的提前终止密码子和预测的C端截短。这些数据确定XSCID与IL-2 R γ基因产物的突变相关。由于XSCID的特征是T细胞的缺失或数量显著减少，我们的发现意味着IL-2 R γ在T细胞的胸腺成熟中起着至关重要的作用。这些结果对XSCID的产前和产后诊断、携带者女性检测和基因治疗也有重要意义。
The interleukin-2 (IL-2) receptor gamma chain (IL-2Rgamma) is a component of high and intermediate affinity IL-2 receptors that is required to achieve full ligand binding affinity and internalization. We have localized the IL-2Rgamma gene to human chromosome Xq13. Genetic linkage analysis indicates that the IL-2Rgamma gene and the locus for X-linked severe combined immunodeficiency (XSCID) appear to be at the same position. Moreover, we demonstrate that each of three unrelated patients with XSCID has a different mutation in his IL-2Rgamma gene resulting in a different premature stop codon and predicted C-terminal truncation. These data establish that XSCID is associated with mutations of the IL-2Rgamma gene product. Since XSCID is characterized by absent or markedly reduced numbers of T cells, our findings imply that IL-2Rgamma plays a vital role in thymic maturation of T cells. These results also have important implications for prenatal and postnatal diagnosis, carrier female detection, and gene therapy for XSCID.