Mevalonate kinase deficiency presenting as recurrent rectal abscesses and perianal fistulae

Ann Allergy Asthma Immunol. 2018 Feb;120(2):214-215. doi: 10.1016/j.anai.2017.11.011. Epub 2017 Dec 28.
No abstract available

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abscess / diagnosis*
  • Abscess / drug therapy
  • Abscess / genetics
  • Antibodies, Monoclonal / pharmacology
  • Antibodies, Monoclonal / therapeutic use
  • Antibodies, Monoclonal, Humanized
  • Diagnosis, Differential
  • Exome Sequencing
  • Gene Frequency
  • Genotype*
  • Humans
  • Infant
  • Interleukin-1beta / antagonists & inhibitors
  • Male
  • Mevalonate Kinase Deficiency / diagnosis*
  • Mevalonate Kinase Deficiency / drug therapy
  • Mevalonate Kinase Deficiency / genetics
  • Mevalonic Acid / urine*
  • Mutation / genetics
  • Pedigree
  • Phosphotransferases (Alcohol Group Acceptor) / genetics*
  • Rectal Fistula / diagnosis*
  • Rectal Fistula / drug therapy
  • Rectal Fistula / genetics
  • Rectum / pathology*
  • Rectum / surgery
  • Remission Induction

Substances

  • Antibodies, Monoclonal
  • Antibodies, Monoclonal, Humanized
  • Interleukin-1beta
  • canakinumab
  • Phosphotransferases (Alcohol Group Acceptor)
  • mevalonate kinase
  • Mevalonic Acid