PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator–dependent autoimmunity

BACKGROUND: PRKDC encodes for DNA-dependent protein kinase catalytic subunit (DNA-PKcs), a kinase that forms part of a complex (DNA-dependent protein kinase [DNA-PK]) crucial for DNA double-strand break repair and V(D)J recombination. In mice DNA-PK also interacts with the transcription factor autoi...

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Publicado no:J Allergy Clin Immunol
Main Authors: Mathieu, Anne-Laure, Verronese, Estelle, Rice, Gillian I., Fouyssac, Fanny, Bertrand, Yves, Picard, Capucine, Chansel, Marie, Walter, Jolan E., Notarangelo, Luigi D., Butte, Manish J., Nadeau, Kari Christine, Csomos, Krisztian, Chen, David J., Chen, Karin, Delgado, Ana, Rigal, Chantal, Bardin, Christine, Schuetz, Catharina, Moshous, Despina, Reumaux, Héloïse, Plenat, François, Phan, Alice, Zabot, Marie-Thérèse, Balme, Brigitte, Viel, Sébastien, Bienvenu, Jacques, Cochat, Pierre, van der Burg, Mirjam, Caux, Christophe, Kemp, E. Helen, Rouvet, Isabelle, Malcus, Christophe, Méritet, Jean-Francois, Lim, Annick, Crow, Yanick J., Fabien, Nicole, Ménétrier-Caux, Christine, De Villartay, Jean-Pierre, Walzer, Thierry, Belot, Alexandre
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4487867/
https://ncbi.nlm.nih.gov/pubmed/25842288
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jaci.2015.01.040
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