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, cilt.26, sa.10, ss.1757-1759, 2007 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 26 Konu: 10
  • Basım Tarihi: 2007
  • Doi Numarası: 10.1007/s10067-006-0501-1
  • Sayfa Sayıları: ss.1757-1759


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.