Homozygosity for the V377I mutation in mevalonate kinase causes distinct clinical phenotypes in two sibs with hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS).
Fiche publication
Date publication
janvier 2016
Journal
RMD open
Auteurs
Membres identifiés du Cancéropôle Est :
Pr BAHRAM Siamak, Dr DALI-YOUCEF Nassim, Dr CARAPITO Raphaël
Tous les auteurs :
Messer L, Alsaleh G, Georgel P, Carapito R, Waterham HR, Dali-Youcef N, Bahram S, Sibilia J
Lien Pubmed
Résumé
Mevalonate kinase (MVK) deficiency is a rare autosomal recessive auto-inflammatory disorder characterised by recurring episodes of fever associated with multiple non-specific inflammatory symptoms and caused by mutations in the MVK gene. The phenotypic spectrum is wide and depends mostly on the nature of the mutations. Hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS) is a relatively mild presentation and predominantly associated with a c.1129G>A (p.V377I) mutation in the MVK gene. We report cases of two sisters homozygous for this mutation but exhibiting distinct (symptomatic vs asymptomatic) phenotypes.
Référence
RMD Open. 2016 ;2(1):e000196