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

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 abolis...

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Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4104692/
https://ncbi.nlm.nih.gov/pubmed/23864330
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22380
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