Fiche publication
Date publication
juillet 2018
Journal
Annals of the rheumatic diseases
Auteurs
Membres identifiés du Cancéropôle Est :
Pr BAHRAM Siamak
,
Dr CIANFERANI Sarah
,
Dr VAN DORSSELAER Alain
,
Dr CARAPITO Christine
,
Dr CARAPITO Raphaël
Tous les auteurs :
Carapito R, Carapito C, Morlon A, Paul N, Vaca Jacome AS, Alsaleh G, Rolli V, Tahar O, Aouadi I, Rompais M, Delalande F, Pichot A, Georgel P, Messer L, Sibilia J, Cianferani S, Van Dorsselaer A, Bahram S
Lien Pubmed
Résumé
The objective of the present study was to explain why two siblings carrying both the same homozygous pathogenic mutation for the autoinflammatory disease hyper IgD syndrome, show opposite phenotypes, that is, the first being asymptomatic, the second presenting all classical characteristics of the disease.
Mots clés
familial mediterranean fever, gene polymorphism, inflammation
Référence
Ann. Rheum. Dis.. 2018 Jul 20;:
