Fiche publication
Date publication
juillet 2024
Journal
The Journal of allergy and clinical immunology
Auteurs
Membres identifiés du Cancéropôle Est :
Dr FOUYSSAC Fanny
Tous les auteurs :
Adelon J, Abolhassani H, Esenboga S, Fouyssac F, Cagdas D, Tezcan I, Kuskonmaz B, Cetinkaya D, Suarez F, Mahdaviani SA, Plassart S, Mathieu AL, Fabien N, Malcus C, Morfin-Sherpa F, Billaud G, Tusseau M, Benezech S, Walzer T, De Villartay JP, Bertrand Y, Belot A
Lien Pubmed
Résumé
DNA-dependent protein kinase catalytic subunit (DNA-PKcs) has an essential role in the non-homologous end-joining pathway that repairs DNA double-strand breaks in V(D)J recombination involved in the expression of T- and B-cell receptors. Whereas homozygous mutations in PRKDC define the scid mouse, a model that has been widely used in biology, human mutations in PRKDC are extremely rare and the disease spectrum has not been described so far.
Mots clés
DNA-dependent protein kinase catalytic subunit, Inborn errors of immunity, autoimmunity, granuloma, radiosensitivity, severe combined immunodeficiency
Référence
J Allergy Clin Immunol. 2024 07 6;:
