F. Altare , E. Jouanguy , M. Newport , S. Lamhamedi , A. Fischer , M. Levin , J.-L. Casanova
{"title":"IFNgR1, a human mycobacterial susceptibility candidate gene","authors":"F. Altare , E. Jouanguy , M. Newport , S. Lamhamedi , A. Fischer , M. Levin , J.-L. Casanova","doi":"10.1016/S0020-2452(97)81368-1","DOIUrl":null,"url":null,"abstract":"<div><p>Human interferon γ receptor ligand binding chain (IFNγR1) deficiency is an autosomal recessive inherited disorder. Affected children show severe, profound and apparently selective susceptibility to weakly pathogenic mycobacteria, such as bacillus Calmette-Guérin (BCG) and non-tuberculous mycobacteria. This article reviews the evidence supporting a causative relationship between the genotype (<em>IFNgR1</em> mutations) and the phenotype (mycobacterial infections) of these children.</p></div>","PeriodicalId":89103,"journal":{"name":"Bulletin de l'Institut Pasteur","volume":"95 3","pages":"Pages 143-146"},"PeriodicalIF":0.0000,"publicationDate":"1997-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S0020-2452(97)81368-1","citationCount":"12","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Bulletin de l'Institut Pasteur","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0020245297813681","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 12
Abstract
Human interferon γ receptor ligand binding chain (IFNγR1) deficiency is an autosomal recessive inherited disorder. Affected children show severe, profound and apparently selective susceptibility to weakly pathogenic mycobacteria, such as bacillus Calmette-Guérin (BCG) and non-tuberculous mycobacteria. This article reviews the evidence supporting a causative relationship between the genotype (IFNgR1 mutations) and the phenotype (mycobacterial infections) of these children.
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