Missense mutation of the interleukin-12 receptor beta1 chain-encoding gene is associated with impaired immunity against Mycobacterium avium complex infection.

Blood
T SakaiH Mitsuya

Abstract

Interleukin-12 (IL-12) plays an important role in the production of interferon gamma (IFN-gamma) and is essential for protection against intracellular pathogens such as Mycobacterium and Salmonella. A 31-year-old man had disseminated Mycobacterium avium complex (MAC) infection. The production of IFN-gamma by peripheral blood mononuclear cells stimulated with phytohemagglutinin (PHA-PBMCs) was found severely impaired (40.7 pg/mL compared with 833 +/- 289 pg/mL for the patient's and healthy subjects' (n = 3) PHA- PBMCs, respectively), and the patient's PHA-PBMCs completely lacked surface IL-12 receptor beta1 (IL-12Rbeta1) chain. The IL-12Rbeta1 gene transcript in his PHA-PBMCs had an R213W substitution in each allele. Family history showed that both parents were heterozygotes in the R213W substitution. Transfection of a human embryonal kidney cell line 293 (HEKC293) with wild-type IL-12Rbeta1wt gene led to cell surface IL-12Rbeta1 expression; however, no expression was seen in HEKC293 transfected with the mutated IL-12Rbeta1R213W gene. The IL-12Rbeta1 gene transcript, but no IL-12Rbeta1 protein, was detected in PHA-PBMCs and T cells, suggesting a post-translational event(s), most likely a shortened turnover of the protein. The R2...Continue Reading

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