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

Clin Rheumatol. 2007 Oct;26(10):1757-9. doi: 10.1007/s10067-006-0501-1. Epub 2006 Dec 15.

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.

Publication types

  • Case Reports

MeSH terms

  • Anticholesteremic Agents / pharmacology
  • Child
  • Female
  • Fever
  • Humans
  • Hypergammaglobulinemia / drug therapy*
  • Immunoglobulin D / chemistry
  • Mutation
  • Phosphotransferases (Alcohol Group Acceptor) / genetics
  • Serum Amyloid A Protein / biosynthesis
  • Simvastatin / pharmacology
  • Syndrome
  • Treatment Outcome
  • Tumor Necrosis Factor-alpha / therapeutic use*
  • Turkey

Substances

  • Anticholesteremic Agents
  • Immunoglobulin D
  • Serum Amyloid A Protein
  • Tumor Necrosis Factor-alpha
  • Simvastatin
  • Phosphotransferases (Alcohol Group Acceptor)
  • mevalonate kinase