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The significance of carrying MEFV variants in symptomatic and asymptomatic individuals.
Clin Genet
September 2024
CEREMAIA, Department of Genetics, CHU of Montpellier, INSERM, University of Montpellier, Montpellier, France.
Article Synopsis
- Familial Mediterranean fever (FMF) is an autoinflammatory disease marked by recurring fever, serositis, and specific skin changes, linked to mutations in the MEFV gene.
- It displays complex inheritance patterns, primarily autosomal recessive, but some patients, especially in the Middle East, show pure dominant inheritance with single mutations.
- The article aims to guide physicians in interpreting genetic test results for both symptomatic and asymptomatic individuals with MEFV variants, addressing the challenges in diagnosis and treatment decisions.
Early predictors of colchicine resistance in familial Mediterranean fever.
Mod Rheumatol
July 2023
Department of paediatrics, Mansoura University Faculty of Medicine, Mansoura, Egypt.
Objective: To explore early features that can predict colchicine resistance in familial Mediterranean fever (FMF) patients.
Methods: It included FMF cases who fulfilled the Yalcinkaya-Ozen criterion and were on colchicine for at least 6 months. Data were collected from medical files and interpreted with respect to clinical parameters, incluing the auto-inflammatory diseases activity index (AIDAI) and FMF severity score.
Real-Life Data From the Largest Pediatric Familial Mediterranean Fever Cohort.
Front Pediatr
January 2022
Department of Rheumatology, Umraniye Research and Training Hospital, University of Health Sciences, Istanbul, Turkey.
Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease manifesting phenotypic heterogeneity. It is a clinically diagnosed disease supported by gene mutation analysis. However, the phenotype-genotype correlation is not yet established clearly.
View Article and Find Full Text PDFIs neutrophilic dermatosis a manifestation of familial Mediterranean fever?
Scand J Rheumatol
January 2022
Internal Medicine Department, Reference Centre for Autoinflammatory Diseases and Amyloidosis (CEREMAIA), Tenon Hospital, Paris, France.
: Familial Mediterranean fever (FMF) is the most frequent monogenic autoinflammatory disease. It is associated with mutations. Its main features are recurrent episodes of fever and serositis.
View Article and Find Full Text PDFFour cases of erysipelas-like inflammation in patients with metastatic melanoma treated with checkpoint inhibitors.
J Dtsch Dermatol Ges
April 2021
Klinik für Dermatologie, Venerologie und Allergologie, Universitätsklinikum des Saarlandes, Homburg/Saar.
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