title: Human host genetic factors in mycobacterial and Salmonella infection: lessons from single gene disorders in IL-12/IL-23-dependent signaling that affect innate and adaptive immunity.
abstract: Interleukin (IL)-12/IL-23 signal transduction-deficient individuals with genetic defects in IL12RB1 or IL12B often suffer from unusual mycobacterial and Salmonella infections. Here we discuss recent questions that have arisen from clinical observations that cast doubt on the necessity of IL-12/IL-23 signaling in controlling infections with intracellular bacteria. Alternative IL-12/IL-23-dependent, interferon-gamma-independent pathways of immunity to intracellular bacteria are also discussed.
authors.affiliation: Department of Infectious Diseases, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands. e.van_de_vosse@lumc.nl
authors.forename: Esther
authors.initials: E
authors.lastname: van de Vosse
authors.forename: Tom H M
authors.initials: TH
authors.lastname: Ottenhoff
mesh_terms: D020022:Genetic Predisposition to Disease; D006801:Humans; D007111:Immunity, Cellular; D007113:Immunity, Innate; D018664:Interleukin-12 / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism; D053759:Interleukin-23; D053760:Interleukin-23 Subunit p19; D007378:Interleukins / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism; D009161:Mycobacterium / Q000378:metabolism / Q000472:pathogenicity; D009164:Mycobacterium Infections / Q000235:genetics* / Q000276:immunology*; D018123:Receptors, Interleukin / Q000172:deficiency / Q000235:genetics; D053707:Receptors, Interleukin-12; D012475:Salmonella / Q000378:metabolism / Q000472:pathogenicity; D012480:Salmonella Infections / Q000235:genetics* / Q000276:immunology*; D015398:Signal Transduction; D014774:Virulence
chemical_list: C508438:IL12RB1 protein, human; C508840:IL23A protein, human; D053759:Interleukin-23; D053760:Interleukin-23 Subunit p19; D007378:Interleukins; D018123:Receptors, Interleukin; D053707:Receptors, Interleukin-12; D018664:Interleukin-12