Article
Molecular complementation of IL-12Rbeta1 deficiency reveals functional differences between IL-12Rbeta1 alleles including partial IL-12Rbeta1 deficiency.
Human molecular genetics - 15 Dec 2005
van de Vosse Esther, de Paus Roelof A, van Dissel Jaap T, Ottenhoff Tom H M
Abstract excerpt
Patients with mutations in IL12RB1, the gene encoding IL-12Rbeta1, suffer from combined IL-12R/IL-23R deficiency and are unusually susceptible to nontuberculous mycobacteria and salmonellae. The functional effects of amino acid changes in IL-12Rbeta1, however, have not been determined at the molecular level. Molecular complementation studies are essential to demonstrate how structural amino acid changes affect...
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