F. Altare , E. Jouanguy , M. Newport , S. Lamhamedi , A. Fischer , M. Levin , J.-L. Casanova
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IFNgR1, a human mycobacterial susceptibility candidate gene
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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