Phenotypic variability in two patients with tumor necrosis factor receptor associated periodic fever syndrome emphasizes a rare manifestation: Immunoglobulin A nephropathy


Balci S., KIŞLA EKİNCİ R. M., MELEK E., ATMIŞ B., BİŞGİN A., YILMAZ M.

EUROPEAN JOURNAL OF MEDICAL GENETICS, cilt.63, sa.4, 2020 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 63 Sayı: 4
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1016/j.ejmg.2019.103780
  • Dergi Adı: EUROPEAN JOURNAL OF MEDICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE
  • Anahtar Kelimeler: TRAPS, Tumor necrosis factor receptor associated periodic syndrome, Recurrent arthritis, IgA nephropathy, T50M, R92Q, FAMILIAL MEDITERRANEAN FEVER, TNF RECEPTOR, RECURRENT FEVER, SYNDROME TRAPS, MUTATIONS, INFLAMMATION, VASCULITIS, DISORDERS, DISEASES
  • Çukurova Üniversitesi Adresli: Evet

Özet

Tumor necrosis factor receptor associated periodic fever syndrome (TRAPS) is caused by heterozygote mutations in TNFRSF1A, characterized by recurrent inflammatory attacks.