A novel homozygous RAG1 mutation in a girl presenting with granulomas and alopecia capitis totalis  

作　　者：Yu Ruan Qin Zhao Qing Liu Hong-Yi Zhao Zhi-Yong Zhang Yuan Ding Xiao-Dong Zhao 

机构地区：[1]Growth,Development,and Mental Health Center of Children and Adolescents,Children’s Hospital of Chongqing Medical University,Chongqing 400014,China [2]Chongqing Key Laboratory of Child Infection and Immunity,Ministry of Education Key Laboratory of Child Development and Disorders,National Clinical Research Center for Child Health and Disorders,China International Science and Technology Cooperation Base of Child Development and Critical Disorders,Children’s Hospital of Chongqing Medical University,136 Zhongshan 2nd Road,Yu Zhong District,Chongqing 400014,China [3]Department of Rheumatology and Immunology,Children’s Hospital of Chongqing Medical University,Chongqing 400014,China

出　　处：《World Journal of Pediatrics》2022年第4期294-299,共6页世界儿科杂志（英文版）

基　　金：This study was supported by the Public Welfare Scientific Research Project of China(No.201402012);the National Natural Science Foundation of China(No.81974255).

摘　　要：Recombination-activating gene 1(RAG1)mutations in humans vary in residual recombination activity and result in heterogeneous clinical phenotypes[1,2].In recent years,RAG deficiency with a milder clinical course and delayed presentation has been reported.These patients present with generalized granulomas,severe complications after viral infections,hypogammaglobulinemia,and various autoimmune manifestations(such as cytopenias,vitiligo,psoriasis,myasthenia gravis,and Guillain-Barre syndrome)[3-17].

关 键 词：GRANULOMA clinical GRAVIS 

分 类 号：R75[医药卫生—皮肤病学与性病学]