title: Interferon-gamma receptor deficiency: relationship between genotype, environment, and phenotype (Review).
abstract: 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 environment in determining phenotypic variations among affected children.
authors.affiliation: Laboratoire INSERM U429, Pavillon Kirmisson, Hopital Necker Enfants Malades, Paris, France.
authors.forename: S
authors.initials: S
authors.lastname: Lamhamedi
authors.forename: E
authors.initials: E
authors.lastname: Jouanguy
authors.forename: F
authors.initials: F
authors.lastname: Altare
authors.forename: J
authors.initials: J
authors.lastname: Roesler
authors.forename: J L
authors.initials: JL
authors.lastname: Casanova
mesh_terms: D004777:Environment; D018740:Genetic Heterogeneity; D005838:Genotype; D010641:Phenotype; D017471:Receptors, Interferon / Q000172:deficiency*; D000096743:Interferon gamma Receptor
chemical_list: D017471:Receptors, Interferon; D000096743:Interferon gamma Receptor