IL-12Rβ1 Deficiency: Mutation Update and Description of the IL12RB1 Variation Database.

TitleIL-12Rβ1 Deficiency: Mutation Update and Description of the IL12RB1 Variation Database.
Publication TypeJournal Article
Year of Publication2013
Authorsvan de Vosse E, Haverkamp MH, Ramirez-Alejo N, Martinez-Gallo M, Blancas-Galicia L, Metin A, Garty BZ, Sun-Tan C, Broides A, de Paus RA, Keskin O, Cağdaş D, Tezcan I, Lopez-Ruzafa E, Aróstegui JI, Levy J, Espinosa-Rosales FJ, Sanal O, Santos-Argumedo L, Casanova J-L, Boisson-Dupuis S, van Dissel JT, Bustamante J
JournalHuman mutation
Volume34
Issue10
Pagination1329-39
Date Published2013 Oct
Abstract

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. Mutations resulting in premature stop codons, such as nonsense, frame shift, and splice site mutations, represent the majority of IL-12Rβ1 deficiency causing mutations (66%; 46/70). Also every other morbid mutation completely inactivates the IL-12Rβ1 protein. In addition to disease-causing mutations, rare and common variations with unknown functional effect have been reported in IL12RB1. All these variants have been deposited in the online IL12RB1 variation database (www.LOVD.nl/IL12RB1). In this article, we review the function of IL-12Rβ1 and molecular genetics of human IL12RB1.

DOI10.1093/ajh/hpt119
Alternate JournalHum. Mutat.