Clinical spectrum and currently available treatment of typeⅠinterferonopathy Aicardi-Goutières syndrome  

作　　者：Giovanni Battista Dell'Isola Gianluca Dini Kaleb Logan Culpepper Katherin Elizabeth Portwood Pietro Ferrara Giuseppe Di Cara Alberto Verrotti Mauro Lodolo 

机构地区：[1]Department of Pediatrics,University of Perugia,Giorgio Menghini Square,06129 Perugia,Italy [2]Department of Neurology Jacksonville,University of Florida,Florida,USA [3]Department of Pediatrics,Division of Child Neurology,University of Florida,UF Health Shands Children's Hospital,Gainesville,FL,USA [4]Unit of Pediatrics,Campus Bio-Medico University,Rome,Italy

出　　处：《World Journal of Pediatrics》2023年第7期635-643,共9页世界儿科杂志（英文版）

基　　金：Universita degli Studi di Perugia within the CRUI-CARE agreement.

摘　　要：Background Aicardi-Goutières syndrome(AGS)is a genetically determined disorder with a variable phenotype.Since the original description of AGS,advances in gene sequencing techniques have resulted in a significant broadening of the phenotypic spectrum associated with AGS genes,and new clinical pictures have emerged beyond the classic presentation.The aim of this review is to provide a comprehensive analysis of the clinical spectrum of AGS and report currently available treatments and new immunosuppressive strategies.Data sources Literature reviews and original research articles were collected from databases,including PubMed and Clini-calTrials.gov.Relevant articles about AGS were included.Results The involvement of the nervous system certainly represents the major cause of mortality and morbidity in AGS patients.However,other clinical manifestations,such as chilblains,hepatosplenomegaly,and hematological disturbances,may lead to the diagnosis and considerably impact the prognosis and overall quality of life of these patients.Therapeutic approaches of AGS are limited to interventions aimed at specific symptoms and the management of multiple comorbidities.However,advances in understanding the pathogenesis of AGS could open new and more effective therapies.Conclusions The over-activation of innate immunity due to upregulated interferon production plays a critical role in AGS,leading to multi-organ damage with the main involvement of the central nervous system.To date,there is no specific and effective treatment for AGS.New drugs specifically targeting the interferon pathway may bring new hope to AGS patients.

关 键 词：Aicardi-Goutieres syndrome Immunosuppressive drugs INTERFERON-Α NEUROINFLAMMATION Systemic lupus erythematosus 

分 类 号：R722.11[医药卫生—儿科]