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 İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 63 Konu: 4
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1016/j.ejmg.2019.103780
  • Dergi Adı: EUROPEAN JOURNAL OF MEDICAL GENETICS

Özet

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