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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:J Clin Immunol
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
Assuntos:
Article
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados