A variety of Alu-mediated copy number variations can underlie IL-12Rβ1 deficiency

PURPOSE: Inborn errors of IFN-γ immunity underlie Mendelian susceptibility to mycobacterial disease (MSMD). Autosomal recessive complete IL-12Rβ1 deficiency is the most frequent genetic etiology of MSMD. Only two of the 84 known mutations are copy number variations (CNVs), identified in two of the 2...

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Publicat a:J Clin Immunol
Autors principals: Rosain, Jérémie, Oleaga-Quintas, Carmen, Deswarte, Caroline, Verdin, Hannah, Marot, Stéphane, Syridou, Garyfallia, Mansouri, Mahboubeh, Mahdaviani, Seyed A., Venegas-Montoya, Edna, Tsolia, Maria, Mesdaghi, Mehrnaz, Chernyshova, Liudmyla, Stepanovskiy, Yuriy, Parvaneh, Nima, Mansouri, Davood, Pedraza-Sánchez, Sigifredo, Bondarenko, Anastasia, Espinosa-Padilla, Sara E., Yamazaki-Nakashimada, Marco A., Nieto-Patlán, Alejandro, Kerner, Gaspard, Lambert, Nathalie, Jacques, Corinne, Corvilain, Emilie, Migaud, Mélanie, Grandin, Virginie, Herrera, María T., Jabot-Hanin, Fabienne, Boisson-Dupuis, Stéphanie, Picard, Capucine, Nitschke, Patrick, Puel, Anne, Tores, Frederic, Abel, Laurent, Galicia, Lizbeth Blancas, De Baere, Elfride, Bole-Feysot, Christine, Casanova, Jean-Laurent, Bustamante, Jacinta
Format: Artigo
Idioma:Inglês
Publicat: 2018
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6329663/
https://ncbi.nlm.nih.gov/pubmed/29995221
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10875-018-0527-6
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