Hyper-IgD syndrome/mevalonate kinase deficiency: what is new?

Semin Immunopathol. 2015 Jul;37(4):371-6. doi: 10.1007/s00281-015-0492-6. Epub 2015 May 20.

Abstract

Mevalonate kinase deficiency or hyper-IgD syndrome is a hereditary autoinflammatory syndrome caused by mutations in the mevalonate kinase gene. In this review, we will discuss new findings in this disorder that have been published in the last 2 years. This includes new insights into pathophysiology, treatment, and the clinical phenotype linked to the genetic defect.

Publication types

  • Review

MeSH terms

  • Humans
  • Mevalonate Kinase Deficiency / diagnosis*
  • Mevalonate Kinase Deficiency / drug therapy*
  • Mevalonate Kinase Deficiency / etiology*