Division of Immunology, Children's Hospital of Chongqing Medical University, Chongqing 400014, China.
World J Pediatr. 2013 Feb;9(1):42-7. doi: 10.1007/s12519-011-0330-4. Epub 2011 Nov 21.
X-linked severe combined immunodeficiency (X-SCID) is a rare, life-threatening immune disorder, caused by mutations of the gene for the γ-chain (γc) of the interleukin-2 receptor, IL2RG. We analyzed the clinical, immunologic, and molecular characteristics of children with X-SCID, attempting to improve the diagnosis and treatment of X-SCID in China.
X-SCID was suspected in male infants with recurrent or persistent infections. Eleven male infants from ten unrelated Chinese families were included. The IL2RG gene was amplified and sequenced, followed by mutation analysis in these children and their female relatives. X-linked short tandem repeat (X-STR) typing was done to define the maternal lymphocyte engraftment.
The 11 children exhibited recurrent infections and 10 of them had lymphopenia. B cells were present in all patients, T cells were markedly reduced in 10, and NK cells were markedly reduced in 9. Nine IL2RG gene mutations were identified in the 11 children, with 5 novel mutations. One patient was found to have the maternal lymphocyte engraftment.
The clinical presentations and immunologic characteristics of the X-SCID patients were accordingly quite uniform despite the heterogeneity of mutations locating almost in the entire γc gene.
探讨 X 连锁严重联合免疫缺陷病（X-SCID）在中国的临床、免疫表型和分子特征，提高对该病的认识和诊治水平。
对 10 个家系的 11 例男性 X-SCID 患儿进行临床分析，所有患儿均为男性，临床表现为反复或持续感染，均行 IL2RG 基因突变分析，对患儿及其女性亲属进行 IL2RG 基因检测，应用 X 连锁短串联重复序列（X-STR）分析进行母系淋巴细胞嵌合状态鉴定。
11 例患儿均有反复感染，10 例有不同程度的淋巴细胞减少，所有患儿均有 B 细胞，10 例患儿 T 细胞减少，9 例患儿 NK 细胞减少。11 例患儿中共发现 9 种 IL2RG 基因突变，其中 5 种为新突变。1 例患儿存在母系淋巴细胞嵌合。
尽管 IL2RG 基因突变位于几乎整个 γc 基因，但 X-SCID 患儿的临床表现和免疫表型较为一致。
