title: Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features.
abstract: Mendelian susceptibility to mycobacterial diseases confers predisposition to clinical disease caused by weakly virulent mycobacterial species in otherwise healthy individuals. Since 1996, disease-causing mutations have been found in five autosomal genes (IFNGR1, IFNGR2, STAT1, IL12B, IL12BR1) and one X-linked gene (NEMO). These genes display a high degree of allelic heterogeneity, defining at least 13 disorders. Although genetically different, these conditions are immunologically related, as all result in impaired IL-12/23-IFN-gamma-mediated immunity. These disorders were initially thought to be rare, but have now been diagnosed in over 220 patients from over 43 countries worldwide. We review here the molecular, cellular, and clinical features of patients with inborn errors of the IL-12/23-IFN-gamma circuit.
authors.affiliation: Laboratory of Human Genetics of Infectious Diseases, University of Paris René Descartes-INSERM U 550, Necker Medical School, 75015 Paris, France, EU.
authors.forename: Orchidée
authors.initials: O
authors.lastname: Filipe-Santos
authors.forename: Jacinta
authors.initials: J
authors.lastname: Bustamante
authors.forename: Ariane
authors.initials: A
authors.lastname: Chapgier
authors.forename: Guillaume
authors.initials: G
authors.lastname: Vogt
authors.forename: Ludovic
authors.initials: L
authors.lastname: de Beaucoudrey
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Feinberg
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Jouanguy
authors.forename: Stéphanie
authors.initials: S
authors.lastname: Boisson-Dupuis
authors.forename: Claire
authors.initials: C
authors.lastname: Fieschi
authors.forename: Capucine
authors.initials: C
authors.lastname: Picard
authors.forename: Jean-Laurent
authors.initials: JL
authors.lastname: Casanova
mesh_terms: D000818:Animals; D030342:Genetic Diseases, Inborn / Q000276:immunology*; D006801:Humans; D007371:Interferon-gamma / Q000235:genetics* / Q000276:immunology; D018664:Interleukin-12 / Q000235:genetics* / Q000276:immunology; D053759:Interleukin-23 / Q000235:genetics* / Q000276:immunology; D009154:Mutation
chemical_list: D053759:Interleukin-23; D018664:Interleukin-12; D007371:Interferon-gamma