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Open Access Article

International Journal of Clinical Research. 2022; 6: (2) ; 28-32 ; DOI: 10.12208/j.ijcr.20220050.

Recombination activating gene deficiency and immunodeficiency phenotype
重组激活基因缺陷与免疫缺陷病表型

作者: 黄雅菊 *

重庆医科大学附属儿童医院 重庆

*通讯作者: 黄雅菊,单位:重庆医科大学附属儿童医院 重庆;

发布时间: 2022-04-24 总浏览量: 892

摘要

重组激活基因1/2(Recombination activating genes,RAG1/2)通过参与V、D、J重组,启动淋巴细胞受体形成的分子过程。RAG1/2缺陷可以导致一系列严重的免疫缺陷病,包括重症联合免疫缺陷(Severecombinedimmunodeficiency,SCID)、Omenn综合征(Omenn syndrome,OS)、非典型SCID(Atypical SCID,AS)、迟发性联合免疫缺陷伴肉芽肿和/或自身免疫(Combined immunodeficiency with granulomas and/or Autoim-munity,CID-G/AI),以及其他迟发非典型表现。不同的临床表型可以表现出截然不同的临床症状,特别是越来越多的不典型SCID和CID-G/AI被发现,极大地丰富了该病的临床表现谱,同时也给一线医生识别并诊断该病带来了挑战。本文对RAG1/2缺陷的各种表型进行总结,为提高临床医师对该病的认识,早期识别、诊断该病以及治疗提供参考。

关键词: 重组激活基因;重症联合免疫缺陷;omenn综合征;非典型SCID;自身免疫

Abstract

Recombination activating genes (RAG1/2) initiates the molecular process of lymphocyte receptor formation by participating in VDJ recombination. RAG1/2 deficiency can cause a series of serious immunodeficiency diseases, including severe combined immunodeficiency (SCID), Omenn syndrome (OS), atypical SCID (AS), Delayed combined immunodeficiency with granulomas and/or autoimmunity (CID-G/AI), as well as other late-onset atypical manifestations. Different clinical phenotypes can show different clinical symptoms, especially more and more atypical SCID and CID-G/AI are found, which not only greatly enriches the clinical manifestation spectrum of the disease, but also brings challenges to front-line doctors to identify and diagnose the disease. This paper summarizes various phenotypes of RAG1/2 deficiency, so as to provide reference for clinicians to improve their understanding of the disease, early identification, diagnosis and treatment of the disease.

Key words: Recombination Activating Genes; Severe Combined Immunodeficiency; Omenn Syndrome; Atypical SCID; Autoimmunity

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引用本文

黄雅菊, 重组激活基因缺陷与免疫缺陷病表型[J]. 国际临床研究杂志, 2022; 6: (2) : 28-32.