title: Human deficiencies in type 1 cytokine receptors reveal the essential role of type 1 cytokines in immunity to intracellular bacteria.
abstract: Studies on patients with idiopathic, severe infections due to poorly pathogenic mycobacteria and Salmonella have revealed that many of these patients are unable to produce or respond to interferon-gamma (IFN-gamma). This inability results from causative, deleterious genetic mutations in either one of four different genes in the type 1 cytokine cascade, encoding interleukin-12Rbeta1 (IL-12Rbeta1), IL-12p40, IFN-gammaR1 or IFN-gammaR2. The immunological phenotypes resulting from the seven groups of complete or partial deficiencies in type 1 cytokine (receptor) genes that have been distinguished thus far will be summarized and discussed, and placed in a broader context in relation to disease susceptibility.
authors: Department of Immunohematology and Blood Transfusion, Leiden University Medical Center, Building 1, E3-Q, P.O. Box 9600, 2300 RC, The, Leiden, Netherlands. t.h.m.ottenhoff@lumc.nl
authors: T H
authors: TH
authors: Ottenhoff
authors: T
authors: T
authors: de Boer
authors: C E
authors: CE
authors: Verhagen
authors: F A
authors: FA
authors: Verreck
authors: J T
authors: JT
authors: van Dissel
mesh_terms: D001424:Bacterial Infections / Q000235:genetics / Q000276:immunology*; D016207:Cytokines / Q000235:genetics / Q000502:physiology*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D007111:Immunity, Cellular; D018664:Interleukin-12 / Q000172:deficiency / Q000235:genetics; D009154:Mutation; D009164:Mycobacterium Infections / Q000235:genetics / Q000276:immunology; D018121:Receptors, Cytokine / Q000172:deficiency / Q000235:genetics*; D017471:Receptors, Interferon / Q000172:deficiency / Q000235:genetics; D018123:Receptors, Interleukin / Q000172:deficiency / Q000235:genetics; D012480:Salmonella Infections / Q000235:genetics / Q000276:immunology; D000096743:Interferon gamma Receptor
chemical_list: D016207:Cytokines; D018664:Interleukin-12; D018121:Receptors, Cytokine; D017471:Receptors, Interferon; D018123:Receptors, Interleukin; D000096743:Interferon gamma Receptor