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Dual T cell– and B cell–intrinsic deficiency in humans with biallelic RLTPR mutations

Combined immunodeficiency (CID) refers to inborn errors of human T cells that also affect B cells because of the T cell deficit or an additional B cell–intrinsic deficit. In this study, we report six patients from three unrelated families with biallelic loss-of-function mutations in RLTPR, the mouse...

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Detalles Bibliográficos
Autores principales: Wang, Yi, Ma, Cindy S., Ling, Yun, Bousfiha, Aziz, Camcioglu, Yildiz, Jacquot, Serge, Payne, Kathryn, Crestani, Elena, Roncagalli, Romain, Belkadi, Aziz, Kerner, Gaspard, Lorenzo, Lazaro, Deswarte, Caroline, Chrabieh, Maya, Patin, Etienne, Vincent, Quentin B., Müller-Fleckenstein, Ingrid, Fleckenstein, Bernhard, Ailal, Fatima, Quintana-Murci, Lluis, Fraitag, Sylvie, Alyanakian, Marie-Alexandra, Leruez-Ville, Marianne, Picard, Capucine, Puel, Anne, Bustamante, Jacinta, Boisson-Dupuis, Stéphanie, Malissen, Marie, Malissen, Bernard, Abel, Laurent, Hovnanian, Alain, Notarangelo, Luigi D., Jouanguy, Emmanuelle, Tangye, Stuart G., Béziat, Vivien, Casanova, Jean-Laurent
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Rockefeller University Press 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5068239/
https://www.ncbi.nlm.nih.gov/pubmed/27647349
http://dx.doi.org/10.1084/jem.20160576