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-Expanded)

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.