| Literature DB >> 9603733 |
R de Jong1, F Altare, I A Haagen, D G Elferink, T Boer, P J van Breda Vriesman, P J Kabel, J M Draaisma, J T van Dissel, F P Kroon, J L Casanova, T H Ottenhoff.
Abstract
Interleukin-12 (IL-12) is a cytokine that promotes cell-mediated immunity to intracellular pathogens by inducing type 1 helper T cell (TH1) responses and interferon-gamma (IFN-gamma) production. IL-12 binds to high-affinity beta1/beta2 heterodimeric IL-12 receptor (IL-12R) complexes on T cell and natural killer cells. Three unrelated individuals with severe, idiopathic mycobacterial and Salmonella infections were found to lack IL-12Rbeta1 chain expression. Their cells were deficient in IL-12R signaling and IFN-gamma production, and their remaining T cell responses were independent of endogenous IL-12. IL-12Rbeta1 sequence analysis revealed genetic mutations that resulted in premature stop codons in the extracellular domain. The lack of IL-12Rbeta1 expression results in a human immunodeficiency and shows the essential role of IL-12 in resistance to infections due to intracellular bacteria.Entities:
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Year: 1998 PMID： 9603733 DOI： 10.1126/science.280.5368.1435
Source DB: PubMed Journal: Science ISSN： 0036-8075 Impact factor: 47.728