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Cytokine Growth Factor Rev. 2000 Dec;11(4):321-33.

Interferon-gamma and interleukin-12 pathway defects and human disease.

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Laboratory of Host Defenses, National Institutes of Health, NIAID, Building 10, Room 11N103, 10 Center Dr, MSC 1886, Bethesda, MD 20892, USA.


A genetic component to human mycobacterial disease susceptibility has long been postulated. Over the past five years, mutations in the interferon-gamma (IFNgamma) receptor, IL-12 receptor beta1 (IL-12Rbeta1), and IL-12 p40 genes have been recognized. These mutations are associated with heightened susceptibility to disease caused by intracellular pathogens including nontuberculous mycobacteria, vaccine-associated bacille Calmette Guerin (BCG), Salmonella species, and some viruses. We describe the genotype-phenotype correlations in IFNgamma receptor, IL-12Rbeta1, and IL-12 p40 deficiency, and discuss how study of these diseases has enhanced knowledge of human host defense against mycobacteria and other intracellular pathogens.

[Indexed for MEDLINE]

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