title: [Mendelian predisposition to mycobacterial infections in humans].
abstract: Selective susceptibility to poorly pathogenic mycobacteria, such as bacille Calmette-Guérin (BCG) vaccine and environmental non-tuberculous mycobacteria (NTM), bas long been suspected to be a mendelian disorder but its molecular basis has remained elusive. Recently, recessive mutations in the interferon gamma receptor ligand-binding chain (IFN gamma R1), interferon gamma receptor signalling chain (IFN gamma R2), interleukin 12 p40 subunit (IL-12 p40), and interleukin 12 receptor beta 1 chain (IL-12R beta 1) genes have been identified in a number of patients with disseminated BCG or NTM infection. Although genetically distinct, these conditions are immunologically related and highlight the essential role of interferon gamma-mediated immunity in the control of mycobacteria in man.
authors: Laboratoire INSERM U429, Hôpital Necker-Enfants Malades, Paris. casanova@necker.fr
authors: J L
authors: JL
authors: Casanova
mesh_terms: D001500:BCG Vaccine / Q000009:adverse effects; D005799:Genes, Dominant; D005808:Genes, Recessive; D020022:Genetic Predisposition to Disease; D006801:Humans; D007371:Interferon-gamma / Q000502:physiology; D018664:Interleukin-12 / Q000737:chemistry / Q000172:deficiency / Q000235:genetics*; D009164:Mycobacterium Infections / Q000235:genetics* / Q000276:immunology; D009165:Mycobacterium Infections, Nontuberculous / Q000235:genetics / Q000276:immunology; D009163:Mycobacterium bovis / Q000472:pathogenicity*; D021122:Protein Subunits; D017471:Receptors, Interferon / Q000737:chemistry / Q000172:deficiency / Q000235:genetics*; D018123:Receptors, Interleukin / Q000737:chemistry / Q000172:deficiency / Q000235:genetics*; D053707:Receptors, Interleukin-12; D000096743:Interferon gamma Receptor
chemical_list: D001500:BCG Vaccine; D007371:Interferon-gamma; D018664:Interleukin-12; D021122:Protein Subunits; D017471:Receptors, Interferon; D018123:Receptors, Interleukin; D053707:Receptors, Interleukin-12; D000096743:Interferon gamma Receptor