Article
PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunity.
The Journal of allergy and clinical immunology - 1 Jun 2015
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
Abstract excerpt
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 autoimmune regulator (AIRE) to promote central T-cell tolerance. OBJECTIVE: We sought to understand the causes of an...
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