以高IgE为表型的原发性免疫缺陷病研究进展  

Research progress of primary immunodeficiency disease with hyper IgE syndrome

作　　者：沈杰 夏宇[1] Shen Jie;Xia Yu(Department of Rheumatology and Immunology,Shenzhen Children′s Hospital Affiliated to China Medical University,Shenzhen 518038,China)

机构地区：[1]中国医科大学深圳市儿童医院风湿免疫科,深圳518038

出　　处：《中华实用儿科临床杂志》2022年第8期638-640,共3页Chinese Journal of Applied Clinical Pediatrics

基　　金：深圳市三名工程项目(SZSM201812002);广东省高水平临床重点专科(深圳市配套建设经费)(SZGSP012)。

摘　　要：高IgE综合征(HIES)是一组以特应性皮炎、复发性皮肤和肺部感染、IgE水平升高为三联征的原发性免疫缺陷病。信号传导与转录激活因子-3(STAT3)功能缺失性突变引起的JOB综合征是最早发现的HIES,而在过去的10年里陆续发现其他一些免疫缺陷病也有高IgE的表现。现简要介绍这些疾病以及它们的分子基础,以帮助提高临床医师对该类疾病的认识。The hyper IgE syndrome(HIES)is a rare primary immunodeficiency disorder characterized by atopic dermatitis,recurrent skin and lung infections along with elevated IgE levels.The JOB syndrome due to heterozygous loss-of-function mutations in the signal transduction and transcription activator-3(STAT3)gene is the prototype of HIES.However,several other immunodeficiency disorders with the phenotype of HIES have been identified over the past decade.This study aims to review these disorders and their molecular mechanisms,aiming to improve the understanding of this rare disease.

关 键 词：原发性免疫缺陷病 特异性皮炎 湿疹 高IGE综合征 

分 类 号：R725.9[医药卫生—儿科]