由 IL2RG 基因第 3 号外显子的新型致病突变引起的 X 连锁重症联合免疫缺陷并发播散性卡介苗-Guérin 杆菌病:病例报告和文献综述

Chunxue Jiang, Yunhan He, Xin Chen, Fei Xia, Feng Shi, Xuewen Xu, Tingting Sun, Kai You
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引用次数: 0

摘要

由白细胞介素-2 受体(IL2RG)γ-链基因突变引起的 X 连锁重症联合免疫缺陷症(X-SCID)是 SCID 的一种流行形式,其特点是在生命早期反复发生致命的机会性感染。SCID患儿中卡介苗(BCG)播散性疾病的发病率远高于普通人群。在此,我们报告了一例 4 个月大的男婴,他出现皮下凹陷、发热、卡介苗接种部位未愈合和肝脾肿大。血液中的元基因组下一代测序、胃液和皮肤结节脓液的检测均证实其感染了结核分枝杆菌。淋巴细胞亚群分析证实存在 T-B+NK 免疫缺陷。全外显子组和桑格(Sanger)测序发现,IL2RG基因中存在一个新的微缺失插入突变(c.316_318delinsGTGAT p.Leu106ValfsTer42),导致编码蛋白的氨基酸序列发生了罕见的改变。因此,该患儿被诊断为由 IL2RG 基因新型突变引起的 X-SCID 病,并伴有全身播散性卡介苗病。尽管患者接受了全身抗感染治疗并住院四天,但出院三天后死亡。据我们所知,这种特殊的 IL2RG 突变以前从未报道过。在我们的系统综述中,我们概述了全身抗结核治疗、造血干细胞移植和基因治疗对IL2RG基因突变引起的SCID和卡介苗病患儿的疗效。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
X-linked severe combined immunodeficiency complicated by disseminated bacillus Calmette-Guérin disease caused by a novel pathogenic mutation in exon 3 of the IL2RG gene: a case report and literature review
X-linked severe combined immunodeficiency (X-SCID), caused by mutations in the gamma-chain gene of the interleukin-2 receptor (IL2RG), is a prevalent form of SCID characterized by recurrent and fatal opportunistic infections that occur early in life. The incidence of disseminated bacillus Calmette-Guérin (BCG) disease among children with SCID is much higher than in the general population. Here, we report the case of a 4-month-old male infant who presented with subcutaneous induration, fever, an unhealed BCG vaccination site, and hepatosplenomegaly. Metagenomic next-generation sequencing in blood, and the detection of gastric juice and skin nodule pus all confirmed the infection of Mycobacterium tuberculosis. Lymphocyte subset analysis confirmed the presence of T-B+NK immunodeficiency. Whole-exome and Sanger sequencing revealed a novel microdeletion insertion mutation (c.316_318delinsGTGAT p.Leu106ValfsTer42) in the IL2RG gene, resulting in a rare shift in the amino acid sequence of the coding protein. Consequently, the child was diagnosed with X-SCID caused by a novel mutation in IL2RG, complicated by systemic disseminated BCG disease. Despite receiving systemic anti-infection treatment and four days of hospitalization, the patient died three days after discharge. To the best of our knowledge, this specific IL2RG mutation has not been previously reported. In our systemic review, we outline the efficacy of systemic anti-tuberculosis therapy, hematopoietic stem cell transplantation, and gene therapy in children with SCID and BCG diseases caused by IL2RG gene mutation.
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