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NBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cells

Loss of NBEAL2 function leads to grey platelet syndrome (GPS), a bleeding disorder characterized by macro-thrombocytopenia and α-granule-deficient platelets. A proportion of patients with GPS develop autoimmunity through an unknown mechanism, which might be related to the proteins NBEAL2 interacts w...

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Detalles Bibliográficos
Autores principales: Delage, Laure, Carbone, Francesco, Riller, Quentin, Zachayus, Jean-Luc, Kerbellec, Erwan, Buzy, Armelle, Stolzenberg, Marie-Claude, Luka, Marine, de Cevins, Camille, Kalouche, Georges, Favier, Rémi, Michel, Alizée, Meynier, Sonia, Corneau, Aurélien, Evrard, Caroline, Neveux, Nathalie, Roudières, Sébastien, Pérot, Brieuc P., Fusaro, Mathieu, Lenoir, Christelle, Pellé, Olivier, Parisot, Mélanie, Bras, Marc, Héritier, Sébastien, Leverger, Guy, Korganow, Anne-Sophie, Picard, Capucine, Latour, Sylvain, Collet, Bénédicte, Fischer, Alain, Neven, Bénédicte, Magérus, Aude, Ménager, Mickaël, Pasquier, Benoit, Rieux-Laucat, Frédéric
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10287742/
https://www.ncbi.nlm.nih.gov/pubmed/37349339
http://dx.doi.org/10.1038/s41467-023-39295-7