Homozygosity for the V377I mutation in mevalonate kinase causes distinct clinical phenotypes in two sibs with hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS).

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

https://www.ncbi.nlm.nih.gov/pubmed/26977311

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