title: Hyper-IgD syndrome/mevalonate kinase deficiency: what is new?
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.
authors.affiliation: Department of Internal Medicine, Nijmegen Centre for Immunodeficiency and Autoinflammation (NCIA), Radboud University Medical Center, Nijmegen, The Netherlands.
authors.forename: C M
authors.initials: CM
authors.lastname: Mulders-Manders
authors.forename: A
authors.initials: A
authors.lastname: Simon
mesh_terms: D006801:Humans; D054078:Mevalonate Kinase Deficiency / Q000175:diagnosis* / Q000188:drug therapy* / Q000209:etiology*