PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunity.
Fiche publication
Date publication
juin 2015
Journal
The Journal of allergy and clinical immunology
Auteurs
Membres identifiés du Cancéropôle Est :
Dr FOUYSSAC Fanny
Tous les auteurs :
Mathieu AL, Verronese E, Rice GI, Fouyssac F, Bertrand Y, Picard C, Chansel M, Walter JE, Notarangelo LD, Butte MJ, Nadeau KC, Csomos K, Chen DJ, Chen K, Delgado A, Rigal C, Bardin C, Schuetz C, Moshous D, Reumaux H, Plenat F, Phan A, Zabot MT, Balme B, Viel S, Bienvenu J, Cochat P, van der Burg M, Caux C, Kemp EH, Rouvet I, Malcus C, Méritet JF, Lim A, Crow YJ, Fabien N, Ménétrier-Caux C, De Villartay JP, Walzer T, Belot A
Lien Pubmed
Résumé
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.
Mots clés
Adolescent, Animals, Autoantibodies, biosynthesis, Autoimmunity, genetics, B-Lymphocytes, immunology, DNA End-Joining Repair, immunology, DNA-Activated Protein Kinase, deficiency, Female, Gene Expression Regulation, Granuloma, genetics, Humans, Immune Tolerance, Immunologic Deficiency Syndromes, genetics, Male, Mice, Mutation, Nuclear Proteins, deficiency, Skin Neoplasms, genetics, Th1 Cells, immunology, Th2 Cells, immunology, Transcription Factors, genetics, V(D)J Recombination, immunology, Young Adult
Référence
J. Allergy Clin. Immunol.. 2015 Jun;135(6):1578-88.e5