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.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Bacterial Infections / genetics
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Bacterial Infections / immunology*
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Cytokines / genetics
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Cytokines / physiology*
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Genetic Predisposition to Disease / genetics
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Humans
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Immunity, Cellular*
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Interferon gamma Receptor
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Interleukin-12 / deficiency
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Interleukin-12 / genetics
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Mutation
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Mycobacterium Infections / genetics
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Mycobacterium Infections / immunology
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Receptors, Cytokine / deficiency
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Receptors, Cytokine / genetics*
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Receptors, Interferon / deficiency
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Receptors, Interferon / genetics
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Receptors, Interleukin / deficiency
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Receptors, Interleukin / genetics
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Salmonella Infections / genetics
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Salmonella Infections / immunology
Substances
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Cytokines
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Receptors, Cytokine
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Receptors, Interferon
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Receptors, Interleukin
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Interleukin-12