dc.contributor.author | van de Vosse, Esther | |
dc.contributor.author | Haverkamp, Margje H. | |
dc.contributor.author | Ramirez-Alejo, Noe | |
dc.contributor.author | Martinez-Gallo, Monica | |
dc.contributor.author | Blancas-Galicia, Lizbeth | |
dc.contributor.author | Metin, Ayse | |
dc.contributor.author | Garty, Ben Zion | |
dc.contributor.author | Sun-Tan, Cagman | |
dc.contributor.author | Broides, Arnon | |
dc.contributor.author | de Paus, Roelof A. | |
dc.contributor.author | Keskin, Ozlem | |
dc.contributor.author | Cagdas, Deniz | |
dc.contributor.author | Tezcan, Ilhan | |
dc.contributor.author | Lopez-Ruzafa, Encarna | |
dc.contributor.author | Arostegui, Juan I. | |
dc.contributor.author | Levy, Jacov | |
dc.contributor.author | Espinosa-Rosales, Francisco J. | |
dc.contributor.author | Sanal, Ozden | |
dc.contributor.author | Santos-Argumedo, Leopoldo | |
dc.contributor.author | Casanova, Jean-Laurent | |
dc.contributor.author | Boisson-Dupuis, Stephanie | |
dc.contributor.author | van Dissel, Jaap T. | |
dc.contributor.author | Bustamante, Jacinta | |
dc.date.accessioned | 2019-12-10T10:38:54Z | |
dc.date.available | 2019-12-10T10:38:54Z | |
dc.date.issued | 2013 | |
dc.identifier.issn | 1059-7794 | |
dc.identifier.uri | https://doi.org/10.1002/humu.22380 | |
dc.identifier.uri | http://hdl.handle.net/11655/14085 | |
dc.description.abstract | 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. | |
dc.language.iso | en | |
dc.publisher | Wiley | |
dc.relation.isversionof | 10.1002/humu.22380 | |
dc.rights | info:eu-repo/semantics/openAccess | |
dc.subject | Genetics & Heredity | |
dc.title | IL-12Rβ1 Deficiency: Mutation Update and Description of the IL12RB1 Variation Database | |
dc.type | info:eu-repo/semantics/article | |
dc.type | info:eu-repo/semantics/publishedVersion | |
dc.relation.journal | Human Mutation | |
dc.contributor.department | Çocuk Sağlığı ve Hastalıkları | |
dc.identifier.volume | 34 | |
dc.identifier.issue | 10 | |
dc.identifier.startpage | 1329 | |
dc.identifier.endpage | 1339 | |
dc.description.index | WoS | |