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

OBJECTIVE: 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...

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Detalles Bibliográficos
Autores principales: Messer, Laurent, Alsaleh, Ghada, Georgel, Philippe, Carapito, Raphael, Waterham, Hans R, Dali-Youcef, Nassim, Bahram, Siamak, Sibilia, Jean
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2016
Materias:
Inflammatory Arthritis
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785531/
https://www.ncbi.nlm.nih.gov/pubmed/26977311
http://dx.doi.org/10.1136/rmdopen-2015-000196

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