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首页> 外文期刊>Clinical immunology: The official journal of the Clinical Immunology Society >The many faces of Artemis-deficient combined immunodeficiency - Two patients with DCLRE1C mutations and a systematic literature review of genotype-phenotype correlation
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The many faces of Artemis-deficient combined immunodeficiency - Two patients with DCLRE1C mutations and a systematic literature review of genotype-phenotype correlation

机译：Artemis缺乏联合免疫缺陷的许多方面-两名DCLRE1C突变患者和基因型-表型相关性的系统文献综述

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Abstract Defective V(D)J recombination and DNA double-strand break (DSB) repair severely impair the development of T-lymphocytes and B-lymphocytes. Most patients manifest a severe combined immunodeficiency during infancy. We report 2 siblings with combined immunodeficiency (CID) and immunodysregulation caused by compound heterozygous Artemis mutations, including an exon 1-3 deletion generating a null allele, and a missense change (p.T71P). Skin fibroblasts demonstrated normal DSB repair by gamma-H2AX analysis, supporting the predicted hypomorphic nature of the p.T71P allele. In addition to these two patients, 12 patients with Artemis-deficient CID were previously reported. All had significant morbidities including recurrent infections, autoimmunity, EBV-associated lymphoma, and carcinoma despite having hypomorphic mutants with residual Artemis expression, V(D)J recombination or DSB repair capacity. Nine patients underwent stem cell transplant and six survived, while four patients who did not receive transplant died. The progressive nature of immunodeficiency and genomic instability accounts for poor survival, and early HSCT should be considered.
机译：摘要缺陷的V（D）J重组和DNA双链断裂（DSB）修复严重损害了T淋巴细胞和B淋巴细胞的发育。大多数患者在婴儿期表现出严重的综合免疫缺陷。我们报告了2个同胞，它们是由复合杂合子Artemis突变（包括外显子1-3缺失产生无效等位基因）和错义变化（p.T71P）引起的，具有联合免疫缺陷（CID）和免疫调节异常。皮肤成纤维细胞通过γ-H2AX分析显示出正常的DSB修复，支持了p.T71P等位基因的预测亚型性质。除这两名患者外，先前还报告了12例Artemis缺乏CID患者。尽管它们具有亚型突变，残留Artemis表达，V（D）J重组或DSB修复能力，但所有患者的发病率均很高，包括反复感染，自身免疫，EBV相关淋巴瘤和癌。 9例患者接受了干细胞移植，其中6例存活，而4例未接受移植的患者死亡。免疫缺陷和基因组不稳定的渐进性导致生存期差，应考虑早期HSCT。

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