Article
Interferon-gamma receptor deficiency: relationship between genotype, environment, and phenotype (Review).
International journal of molecular medicine - 1 Feb 1998
Lamhamedi S, Jouanguy E, Altare F, Roesler J, Casanova J L
Abstract excerpt
Interferon-gamma receptor ligand binding chain (IFNgammaR1) deficiency is an autosomal recessive inherited immune disorder. Mutations in the IFNgR1 gene are associated with severe infections due to mycobacteria. However, several aspects of the phenotype of IFNgammaR1-deficient children have recently been found to vary from case to case. This review thus discusses the respective roles of the genotype and of the...
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