2. Academic Validation
  3. IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database

IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database

  • Hum Mutat. 2013 Oct;34(10):1329-39. doi: 10.1002/humu.22380.
Esther van de Vosse 1,  Margje H Haverkamp,  Noe Ramirez-Alejo,  Mónica Martinez-Gallo,  Lizbeth Blancas-Galicia,  Ayşe Metin,  Ben Zion Garty,  Çağman Sun-Tan,  Arnon Broides,  Roelof A de Paus,  Özlem Keskin,  Deniz Çağdaş,  Ilhan Tezcan,  Encarna Lopez-Ruzafa,  Juan I Aróstegui,  Jacov Levy,  Francisco J Espinosa-Rosales,  Özden Sanal,  Leopoldo Santos-Argumedo,  Jean-Laurent Casanova,  Stephanie Boisson-Dupuis,  Jaap T van Dissel,  Jacinta Bustamante
Affiliations

Affiliation

  • 1 Department of Infectious Diseases, Leiden University Medical Center, Leiden, The Netherlands.
PMID: 23864330 DOI: 10.1002/humu.22380
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.

Keywords

IL-12Rβ1 deficiency; IL12RB1; Mendelian susceptibility to mycobacterial disease.

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