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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izdano v: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
Format: Artigo
Jezik:Inglês
Izdano: 2015
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Article
Online dostop: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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