Journal
HUMAN MUTATION
Volume 34, Issue 10, Pages 1329-1339Publisher
WILEY
DOI: 10.1002/humu.22380
Keywords
IL12RB1; IL-12R1 deficiency; Mendelian susceptibility to mycobacterial disease
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Funding
- NIAID NIH HHS [R01 AI089970] Funding Source: Medline
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IL-12R1 deficiency is an autosomal recessive disorder characterized by predisposition to recurrent and/or severe infections caused by otherwise poorly pathogenic mycobacteria and salmonella. IL-12R1 is a receptor chain of both the IL-12 and the IL-23 receptor and deficiency of IL-12R1 thus abolishes both IL-12 and IL-23 signaling. IL-12R1 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-12R1 deficiency causing mutations (66%; 46/70). Also every other morbid mutation completely inactivates the IL-12R1 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-12R1 and molecular genetics of human IL12RB1. (C) 2013 Wiley Periodicals, Inc.
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