Tsuge I, Matsuoka H, Abe T, Kamachi Y, Torii S
Department of Paediatrics, Nagoya University School of Medicine, Japan.
Eur J Pediatr. 1996 Dec;155(12):1018-24. doi: 10.1007/BF02532522.
Severe combined immunodeficiency (SCID) with a normal number of B-lymphocytes usually demonstrates an X-linked inheritance and now is regarded as an interleukin-2-receptor (IL-2R) gamma-chain gene defect. Here, we report the characterization of mutations in the IL-2R gamma-chain gene of six unrelated SCID patients. One large deletion, one short deletion, one nonsense mutation and three single missense mutations were identified. The missense mutations were located near the motifs common to members of the class I cytokine receptor family. Two of the missense mutations were the same as previously reported in spite of the difference of ethnic backgrounds. The remaining four patients had newly identified mutations.
Our results emphasize the broad molecular heterogeneity of X-linked SCID and suggest the presence of mutational "hot spots" within the IL-2R gamma-chain gene.
B淋巴细胞数量正常的重症联合免疫缺陷（SCID）通常表现为X连锁遗传，目前被认为是白细胞介素-2受体（IL-2R）γ链基因缺陷。在此，我们报告了6例无关的SCID患者IL-2Rγ链基因突变的特征。鉴定出1个大片段缺失、1个小片段缺失、1个无义突变和3个单错义突变。错义突变位于I类细胞因子受体家族成员共有的基序附近。尽管种族背景不同，但其中2个错义突变与先前报道的相同。其余4例患者有新发现的突变。
我们的结果强调了X连锁SCID广泛的分子异质性，并提示IL-2Rγ链基因内存在突变“热点”。
