title: [Mendelian susceptibility to mycobacterial disease: defects in the IL-12/IFNgamma pathway].
abstract: Mendelian susceptibility to mycobacterial disease is a recently described entity, responsible for disseminated disease due to nonvirulent mycobacteria and, to a lesser extent, non-typhoid salmonella in otherwise healthy patients. Different mutations in 5 genes and allelic heterogeneity accounts for 12 different diseases. The proteins encoded by the mutated alleles all belong to the interferon gamma/ìnterleukin 12 loop, a hallmark of granulomatous immune response. Patients with defects in the IFNgamma pathway are predisposed to mycobacterial diseases, while those with defects in the IL-12 pathway are threatened more often by non-typhoid (systemic) salmonellosis. Tuberculosis has been described in both of these signaling pathway defects. Genetic dissection of the IL-12/IFNgamma pathway should improve our understanding of the human immune response to mycobacteria and help us begin to elucidate the genetic bases of tuberculosis.
authors.affiliation: Département d'immunologie, Unité d'immunopathologie, Hôpital Saint-Louis, AP-HP, Paris (75). claire.fieschi@sls.aphp.fr
authors.forename: Claire
authors.initials: C
authors.lastname: Fieschi
mesh_terms: D020022:Genetic Predisposition to Disease; D006801:Humans; D007371:Interferon-gamma / Q000172:deficiency*; D018664:Interleukin-12 / Q000172:deficiency*; D009164:Mycobacterium Infections / Q000235:genetics* / Q000276:immunology
chemical_list: D018664:Interleukin-12; D007371:Interferon-gamma