Multi-OMICS analyses unveil as a potential modifier gene in mevalonate kinase deficiency.

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

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;: