重组激活基因缺陷与免疫缺陷病表型-国际临床研究杂志-CSCIED科技核心评价数据库-手机版

重组激活基因缺陷与免疫缺陷病表型

Recombination activating gene deficiency and immunodeficiency phenotype

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DOI	10.12208/j.ijcr.20220050
刊名	国际临床研究杂志 International Journal of Clinical Research
年，卷(期)	2022, 6(2)
作者	黄雅菊*,
作者单位	重庆医科大学附属儿童医院重庆 ;
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。
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.
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
KeyWord	Recombination Activating Genes; Severe Combined Immunodeficiency; Omenn Syndrome; Atypical SCID; Autoimmunity
基金项目
页码	28-32

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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.

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