Article
Mevalonate kinase genotype in children with recurrent fevers and high serum IgD level.
Rheumatology international - 1 Dec 2013
Stabile Achille, Compagnone Adele, Napodano Salvatore, Raffaele Carmela Gerarda Luana, Patti Maria, Rigante Donato
Abstract excerpt
In selected cases, childhood's recurrent fevers of unknown origin can be referred to systemic autoinflammatory diseases as mevalonate kinase deficiency (MKD), caused by mutations in the mevalonate kinase gene (MVK), previously named "hyper-IgD syndrome" due to its characteristic increase in serum IgD level. There is no clear evidence for studying MVK genotype in these patients. From a cohort of 305 children...
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