Omenn综合征致病基因的研究进展  

Advances in pathogenic genes of Omenn syndrome

作　　者：金星昊(综述) 张志勇(审校)[1] JIN Xinghao;ZHANG Zhiyong(Department of Rheumatology Immunology,Children′s Hospital of Chongqing Medical University,National Clinical Research Center for Child Health and Disorders,Ministry of Education Key Laboratory of Child Developmental and Disorders,Chongqing Key Laboratory of Child Infection and Immunity,Chongqing 400014,China)

机构地区：[1]重庆医科大学附属儿童医院风湿免疫科/国家儿童健康与疾病临床医学研究中心/儿童发育疾病研究教育部重点实验室/儿童感染免疫重庆市重点实验室,重庆400014

出　　处：《现代医药卫生》2024年第12期2118-2121,2125,共5页Journal of Modern Medicine & Health

摘　　要：Omenn综合征(OS)是一种罕见的常染色体隐性遗传的免疫缺陷病,是重症联合免疫缺陷的一种。其临床表现主要以红皮病、肝脾和淋巴结肿大、反复感染为特征,并可伴有自身免疫表现。常伴有IgE以及嗜酸性粒细胞增多,B淋巴细胞缺如。OS的发生与抗原受体V、D、J的重组异常有关,最常见的是重组激活基因的突变。V、D、J重组过程还有Artemis、DNA连接酶Ⅳ等物质的参与,相应基因突变也会导致OS。该文主要讨论关于OS致病基因的研究进展,帮助理解OS发生的病理过程,并为OS的诊断提供思路。Omenn Syndrome(OS)is a rare autosomal recessive immunodeficiency disease,which is a kind of severe combined immunodeficiency.Its clinical manifestations are mainly characterized by erythroderma,hepatosplenomegaly and lymphadenopathy,recurrent infection,and may be accompanied by autoimmune manifestations.It is often accompanied by IgE and eosinophilia,and the absence of B lymphocytes.The occurrence of OS is associated with abnormal recombination of antigen receptor V,D,J,the most common of which is the mutation of recombination activating gene.The V,D,J recombination process also involves Artemis,DNA ligaseⅣand other substances,and the corresponding gene mutation can also lead to OS.This article mainly discussed about the research progress of OS disease genes that help understand the pathological process of OS,and provide ideas for the diagnosis of OS.

关 键 词：Omenn综合征 RAG ARTEMIS DNA连接酶Ⅳ IL-7受体 ADA 22q11微重复 综述 

分 类 号：R593.3[医药卫生—内科学]