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

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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)

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.