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Biochem Biophys Res Commun. 1999 Dec 20;266(2):551-5.

Mutations of the IL-12 receptor beta2 chain gene in atopic subjects.

Author information

1
Department of Pediatrics, Gifu University School of Medicine, 40 Tsukasa-machi, Gifu, 500-8705, Japan.

Abstract

Interleukin-12(IL-12) promotes cell-mediated Th1 responses and production of IFN-gamma that downregulates IgE production. The signal of IL-12 is transduced through the IL-12 receptor (IL-12R) and Stat4. Twenty-four of 75 atopic individuals with high levels of IgE showed insufficient IFN-gamma production by peripheral blood mononuclear cells (PBMCs) following stimulation with IL-12 but not that with phytohemagglutinin (PHA). Interestingly, 10 of the above 24 subjects were found to be heterozygous for truncated (2496 del 91) or missense (1577 A to G and 2799 A to G) mutations of IL-12R beta2 chain gene (IL-12R beta2). Insufficient phosphorylation of Stat4 was also demonstrated in these 10 individuals. This is the first report showing that reduced IFN-gamma production following IL-12 stimulation is associated with the heterozygous IL-12R beta2 mutations in atopic subjects.

PMID:
10600539
DOI:
10.1006/bbrc.1999.1859
[Indexed for MEDLINE]

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