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

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

https://www.ncbi.nlm.nih.gov/pubmed/25842288

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