A patient with hyper-IgD syndrome responding to anti-TNF treatment

Demirkaya E., Caglar M. K., Waterham H. R., Topaloglu R., Ozen S.

CLINICAL RHEUMATOLOGY, vol.26, no.10, pp.1757-1759, 2007 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 26 Issue: 10
  • Publication Date: 2007
  • Doi Number: 10.1007/s10067-006-0501-1
  • Journal Name: CLINICAL RHEUMATOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1757-1759
  • Hacettepe University Affiliated: Yes

Abstract

The hyperimmunoglobulinemia D periodic fever syndrome (HIDS) is caused by recessive mutations in the mevalonate kinase gene, which encodes an enzyme involved in cholesterol and nonsterol isoprenoid biosynthesis. The pathogenesis and treatment remains unclear. We describe a 6-year-old Turkish girl with severe disease. Her clinical features were accompanied with very high acute-phase reactants including a very high serum amyloid A level. The patient responded well to anti-tumor necrosis factor treatment. Our findings support the use of this anti-cytokine treatment in HIDS.