Essadssi Soukaina, Benhsaien Ibtihal, Bakhchane Amina, Charoute Hicham, Abdelghaffar Houria, Bousfiha Ahmed Aziz, Barakat Abdelhamid
Laboratory of Genomics and Human Genetics, Institut Pasteur du Maroc, Casablanca, Morocco.
Laboratory of Biosciences, Integrated and Molecular Functional Exploration (LBEFIM), Faculty of Science and Technology of Mohammedia, Hassan II University of Casablanca, Casablanca, Morocco.
Hum Hered. 2019;84(6):272-278. doi: 10.1159/000510062. Epub 2020 Oct 19.
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.
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.
After filtering data and Sanger sequencing validation, one homozygous mutation c.2446G>A (p.Gly816Arg) was identified in the RAG1 gene.
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.
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，其结果是产生多样化的抗原受体基因库并建立适应性免疫。RAG1突变可导致多种形式的联合免疫缺陷。
在本报告中，对一名患有联合免疫缺陷、伴有T和B淋巴细胞减少、自身免疫性溶血性贫血以及巨细胞病毒（CMV）感染的摩洛哥儿童进行了全外显子组测序。
经过数据筛选和桑格测序验证，在RAG1基因中鉴定出一个纯合突变c.2446G>A（p.Gly816Arg）。
这一发现扩展了与RAG1突变相关的免疫和遗传谱，也说明了即使免疫表型或多或少看似正常，但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。
