Hyper-IgD and periodic fever syndrome (HIDS) due to compound heterozygosity for G336S and V377I in a 44-year-old patient with a 27-year history of fever

BMJ Case Rep. 2016 Nov 29:2016:bcr2016217616. doi: 10.1136/bcr-2016-217616.

Abstract

Hereditary autoinflammatory syndromes are a rare, but notable cause of fever of unknown origin. During the last few years, the knowledge of the genetic background has significantly increased. Here, we report a novel pathogenic mutation in the MVK gene as the cause of fever in a 44-year-old male patient with a history of fever over a period of 27 years.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • DNA Mutational Analysis
  • Familial Mediterranean Fever / genetics*
  • Humans
  • Hypergammaglobulinemia / complications
  • Hypergammaglobulinemia / genetics*
  • Immunoglobulin D / metabolism*
  • Male
  • Mutation, Missense
  • Syndrome

Substances

  • Immunoglobulin D