Aicardi-Goutières syndrome
HE Ting-yan
YANG Jun
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.
Keywords：immunodeficiencygene mutationAicardi-Goutières syndromeinterferonopathy
Publication Date：2018-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 29-33 )