title: Interferon-gamma and interleukin-12 pathway defects and human disease.
abstract: A genetic component to human mycobacterial disease susceptibility has long been postulated. Over the past five years, mutations in the interferon-gamma (IFNgamma) receptor, IL-12 receptor beta1 (IL-12Rbeta1), and IL-12 p40 genes have been recognized. These mutations are associated with heightened susceptibility to disease caused by intracellular pathogens including nontuberculous mycobacteria, vaccine-associated bacille Calmette Guerin (BCG), Salmonella species, and some viruses. We describe the genotype-phenotype correlations in IFNgamma receptor, IL-12Rbeta1, and IL-12 p40 deficiency, and discuss how study of these diseases has enhanced knowledge of human host defense against mycobacteria and other intracellular pathogens.
authors.affiliation: Laboratory of Host Defenses, National Institutes of Health, NIAID, Building 10, Room 11N103, 10 Center Dr, MSC 1886, Bethesda, MD 20892, USA.
authors.forename: S E
authors.initials: SE
authors.lastname: Dorman
authors.forename: S M
authors.initials: SM
authors.lastname: Holland
mesh_terms: D000818:Animals; D006801:Humans; D007371:Interferon-gamma / Q000172:deficiency / Q000235:genetics* / Q000502:physiology; D018664:Interleukin-12 / Q000172:deficiency / Q000235:genetics* / Q000502:physiology; D051379:Mice; D018345:Mice, Knockout; D009154:Mutation; D009164:Mycobacterium Infections / Q000209:etiology; D017471:Receptors, Interferon / Q000172:deficiency / Q000235:genetics / Q000502:physiology; D018123:Receptors, Interleukin / Q000172:deficiency / Q000235:genetics / Q000502:physiology; D053707:Receptors, Interleukin-12; D014376:Tuberculosis / Q000209:etiology; D000096743:Interferon gamma Receptor
chemical_list: D007371:Interferon-gamma; D018664:Interleukin-12; D017471:Receptors, Interferon; D018123:Receptors, Interleukin; D053707:Receptors, Interleukin-12; D000096743:Interferon gamma Receptor; C508438:IL12RB1 protein, human; C508440:Il12rb1 protein, mouse