학술논문
IL-12Rβ1 Deficiency: Mutation Update and Description of the IL12RB1 Variation Database
Document Type
Academic Journal
Author
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
Source
Human Mutation. Oct 01, 2013 34(10):1329-1339
Subject
Language
English
ISSN
1059-7794
Abstract
ABSTRACT:: IL-12Rβ1 deficiency is an autosomal recessive disorder that predisposes to severe infections with otherwise poorly pathogenic mycobacteria and salmonella. Seventy unique IL12RB1 mutations in 198 individuals are known that almost invariably result in the same cellular phenotype: absence of IL-12Rβ1 expression on the cell surface (in all but one) and absence of IL-12 and IL-23 responses (in all). No genotype–phenotype relationship exists. This manuscript reviews the function of IL-12Rβ1 and molecular genetics of IL12RB1, and introduces the IL12RB1 mutation database.(Figure is included in full-text article.)