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A Homozygous RAG1 Gene Mutation in a Case of Combined Immunodeficiency: Clinical, Molecular, and Computational Analysis
Human Heredity ( IF 1.8 ) Pub Date : 2020-10-19 , DOI: 10.1159/000510062
Soukaina Essadssi , Ibtihal Benhsaien , Amina Bakhchane , Hicham Charoute , Houria Abdelghaffar , Ahmed Aziz Bousfiha , Abdelhamid Barakat

Background: The recombination-activating gene 1 and 2 (RAG1/RAG2) proteins are essential to initiate the V(D)J recombination process, the result is a diverse repertoire of antigen receptor genes and the establishment of the adaptive immunity. RAG1 mutations can lead to multiple forms of combined immunodeficiency. Methods: In this report, whole exome sequencing was performed in a Moroccan child suffering from combined immunodeficiency, with T and B lymphopenia, autoimmune hemolytic anemia, and cytomegalovirus (CMV) infection. Results: After filtering data and Sanger sequencing validation, one homozygous mutation c.2446G#x3e;A (p.Gly816Arg) was identified in the RAG1 gene. Conclusion: This finding expands the spectrum of immunological and genetic profiles linked to RAG1 mutation, it also illustrates the necessity to consider RAG1 immunodeficiency in the presence of autoimmune hemolytic anemia and CMV infection, even assuming the immunological phenotype appears more or less normal.
Hum Hered


中文翻译:

纯合RAG1基因突变的联合免疫缺陷病例:临床,分子和计算分析。

背景:重组激活基因1和2(RAG1 / RAG2)蛋白对于启动V(D)J重组过程至关重要,其结果是抗原受体基因的多样性和适应性免疫的建立。RAG1突变可导致多种形式的联合免疫缺陷。方法:在本报告中,对患有合并免疫缺陷,T和B淋巴细胞减少,自身免疫性溶血性贫血和巨细胞病毒(CMV)感染的摩洛哥儿童进行了全外显子组测序。结果:过滤数据并进行Sanger测序验证后,在RAG1基因中鉴定出一个纯合突变c.2446G#x3e; A(p.Gly816Arg)。结论:这一发现扩大了与RAG1突变相关的免疫学和遗传学谱的范围,它也说明了在存在自身免疫性溶血性贫血和CMV感染的情况下考虑RAG1免疫缺陷的必要性,即使假设免疫表型看起来或多或少是正常的。
嗡嗡声
更新日期:2020-10-19
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