中国实用儿科杂志2018，Vol.33Issue(1)：29-33,5.DOI:10.19538/j.ek2018010609
Aicardi-Goutières综合征
Aicardi-Goutières syndrome
摘要
Abstract
Aicardi-Goutières syndrome (AGS) is a rare group of genetically determined disorders mainly with neurological and skin involvement.The main clinical features include multiple intracranial calcification,white matter changes,chronic lymphocytosis in cerebrospinal fluid (CSF),chilblains or other skin lesions.Seven pathogenic genes have been identified,including TREX1,RNASEH2B,RNASEH2C,RNASEH2A,SAMHD1,ADAR1 and IFIH1.This article will comprehensively discuss AGS in its pathogenesis,clinical manifestations,auxiliary examination,diagnosis and differential diagnosis,therapies and prognosis.关键词
免疫缺陷/基因突变/Aicardi-Goutières综合征/干扰素病Key words
immunodeficiency/gene mutation/Aicardi-Goutières syndrome/interferonopathy分类
医药卫生引用本文复制引用
何庭艳,杨军..Aicardi-Goutières综合征[J].中国实用儿科杂志,2018,33(1):29-33,5.基金项目
国家卫生和计划生育委员会公益性行业科研专项(201402012) （201402012）
深圳市科创委深科技创新学科布局项目(JCYJ20160429174400950) （JCYJ20160429174400950）
