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, vol.63, no.4, 2020 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 63 Issue: 4
  • Publication Date: 2020
  • Doi Number: 10.1016/j.ejmg.2019.103780
  • Journal Name: EUROPEAN JOURNAL OF MEDICAL GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE
  • Keywords: 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 University Affiliated: Yes

Abstract

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