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

Balci, SİBEL; KIŞLA EKİNCİ, RABİA; MELEK, ENGİN; ATMIŞ, BAHRİYE; BİŞGİN, ATIL; YILMAZ, MUSTAFA

doi:10.1016/j.ejmg.2019.103780

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

Atıf İçin Kopyala

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)

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.