A patient with hyper-IgD syndrome in Antalya, Turkey

Coban E., Terzioglu E.

CLINICAL RHEUMATOLOGY, cilt.23, sa.2, ss.177-178, 2004 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 23 Sayı: 2
  • Basım Tarihi: 2004
  • Doi Numarası: 10.1007/s10067-003-0858-3
  • Dergi Adı: CLINICAL RHEUMATOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.177-178
  • Anahtar Kelimeler: familial Mediterranean fever, hyper-IgD syndrome, FAMILIAL MEDITERRANEAN FEVER, MOLECULAR ANALYSIS, HYPERIMMUNOGLOBULINEMIA-D, MUTATIONS, DISEASES
  • Akdeniz Üniversitesi Adresli: Evet

Özet

Hyper-IgD syndrome is a periodic fever syndrome that presents with recurrent episodes of high fever accompanied by lymphadenopathy, abdominal distress, arthralgias or arthritis, headache and skin lesions. The diagnosis is based on clinical grounds and elevated serum IgD levels (> 100 U/ml), but requires a high index of suspicion, and a mevalonate kinase enzyme defect. Most patients are from western Europe but there are others identified in other countries. We describe a 17-year-old patient who had been followed with the diagnosis of familial Mediterranean fever for a long time before she was diagnosed with hyper-IgD syndrome.