Article
IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database.
Human mutation - 1 Oct 2013
van de Vosse Esther, Haverkamp Margje H, Ramirez-Alejo Noe, Martinez-Gallo Mónica, Blancas-Galicia Lizbeth, Metin Ayşe, Garty Ben Zion, Sun-Tan Çağman, Broides Arnon, de Paus Roelof A, Keskin Özlem, Çağdaş Deniz, Tezcan Ilhan, Lopez-Ruzafa Encarna, Aróstegui Juan I, Levy Jacov, Espinosa-Rosales Francisco J, Sanal Özden, Santos-Argumedo Leopoldo, Casanova Jean-Laurent, Boisson-Dupuis Stephanie, van Dissel Jaap T, Bustamante Jacinta
Abstract excerpt
IL-12Rβ1 deficiency is an autosomal recessive disorder characterized by predisposition to recurrent and/or severe infections caused by otherwise poorly pathogenic mycobacteria and salmonella. IL-12Rβ1 is a receptor chain of both the IL-12 and the IL-23 receptor and deficiency of IL-12Rβ1 thus abolishes both IL-12 and IL-23 signaling. IL-12Rβ1 deficiency is caused by bi-allelic mutations in the IL12RB1 gene....
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