Fiche publication
Date publication
mai 2018
Journal
The Journal of allergy and clinical immunology
Auteurs
Membres identifiés du Cancéropôle Est :
Dr KIRSTETTER Peggy
,
Pr MARTIN Thierry
Tous les auteurs :
Bouis D, Kirstetter P, Arbogast F, Lamon D, Delgado V, Jung S, Ebel C, Jacobs H, Knapp AM, Jeremiah N, Belot A, Martin T, Crow YJ, André-Schmutz I, Korganow AS, Rieux-Laucat F, Soulas-Sprauel P
Lien Pubmed
Résumé
Autosomal dominant gain-of-function (GOF) mutations in human STING (Stimulator of Interferon Genes) lead to a severe autoinflammatory disease called SAVI (STING Associated Vasculopathy with onset in Infancy), associated with enhanced expression of interferon (IFN) stimulated gene (ISG) transcripts.
Mots clés
Severe combined immunodeficiency, V154M, stimulator of interferon genes, type I interferon
Référence
J. Allergy Clin. Immunol.. 2018 May 23;:
