The enigma of familial Mediterranean fever: phenotypic characterization of patients harbouring variants of uncertain significance
Individuals with VUS variants in the MEFV gene may present with a classic FMF phenotype characterized by mild to moderate disease activity. Patients carrying various VUS genotypes in the MEFV gene exhibit comparable clinical features with some degree of variation.
Authors
- Taner Çoşkuner (ORCID: https://orcid.org/0000-0001-7844-3387)
- Betül Sözeri (ORCID: https://orcid.org/0000-0002-5079-5644)
- Sıla Atamyıldız Uçar (ORCID: https://orcid.org/0000-0002-4283-0921)
- Şeyma Türkmen (ORCID: https://orcid.org/0000-0002-2318-0361)
- Kadir Ulu (ORCID: https://orcid.org/0000-0002-8197-6077)
- Ramazan Emre Yiğit (ORCID: https://orcid.org/0000-0002-9076-2599)
- Murat Hakkı Yarar (ORCID: https://orcid.org/0000-0001-8481-9803)
- Gülcan Özomay Baykal (ORCID: https://orcid.org/0000-0003-3427-1418)
- Eray Tunce (ORCID: https://orcid.org/0000-0002-4801-6605)
- Gülşah Pirim (ORCID: https://orcid.org/0000-0001-9315-6351)
- Metin Eser (ORCID: https://orcid.org/0000-0001-7118-7958)
Institutions
- University of Health Science (KH)
- Ümraniye Eğitim ve Araştırma Hastanesi (TR)
- Sağlık Bilimleri Üniversitesi (TR)
- University of Health Sciences Antigua (AG)
Publication Details
- Journal
- Lara D. Veeken
- Published
- 2025-03-11
- DOI
- https://doi.org/10.1093/rheumatology/keaf139
- Citations
- 2
- Primary Topic
- Inflammasome and immune disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.61