Mevalonate kinase deficiency (hyper-IgD syndrome) overlap mutation familial Mediterranean fever

Reumatol Clin. 2017 Jan-Feb;13(1):57. doi: 10.1016/j.reuma.2016.03.007. Epub 2016 Apr 11.
[Article in English, Spanish]
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child
  • Familial Mediterranean Fever / complications
  • Familial Mediterranean Fever / diagnosis*
  • Familial Mediterranean Fever / genetics
  • Genetic Markers
  • Homozygote
  • Humans
  • Male
  • Mevalonate Kinase Deficiency / complications
  • Mevalonate Kinase Deficiency / diagnosis*
  • Mevalonate Kinase Deficiency / genetics
  • Mutation*
  • Phosphotransferases (Alcohol Group Acceptor) / genetics*
  • Pyrin / genetics*

Substances

  • Genetic Markers
  • MEFV protein, human
  • Pyrin
  • Phosphotransferases (Alcohol Group Acceptor)
  • mevalonate kinase