Hyperimmunoglobulinaemia D syndrome: A rare cause of prolonged fever and treatment with anti-interleukin 1 agent

Aygun D. , Sahin S., Cokugras H. C. , Kasapcopur Ö.

BMJ Case Reports, vol.2016, 2016 (Refereed Journals of Other Institutions) identifier identifier

  • Publication Type: Article / Article
  • Volume: 2016
  • Publication Date: 2016
  • Doi Number: 10.1136/bcr-2016-214941
  • Title of Journal : BMJ Case Reports


©2016 BMJ Publishing Group. All rights reserved.Hyperimmunoglobulinaemia D syndrome (HIDS) is an autosomal recessive, autoinflammatory disease that is characterised with intermittent febrile episodes, cervical lymphadenopathy, rashes, arthritis and gastrointestinal symptoms associated with synovial or serosal inflammation. HIDS is caused by mutations in the gene encoding mevalonate kinase enzyme. The febrile attacks usually start in early childhood and triggered by stress or vaccinations. We report a case of 16-month-old boy who had episodes of recurrent fever accompanied by maculopapular rash and lymphadenopathy. He was diagnosed as HIDS and he had heterozygote mutation of mevalonate kinase gene.