ArticleEuropean journal of rheumatology2019
Exon 2: Is it the good police in familial mediterranean fever?
Article in European journal of rheumatology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
6 citing papers in PubMed, 16 citations in OpenAlex.
- Familial Mediterranean Fever With Compound Heterozygosity for the Pyrin Variant L110P-E148Q: A Case Report.Cureus · 2025Article
- Cardiac Tamponade: A Rare Manifestation of Familial Mediterranean Fever.Case reports in rheumatology · 2022Article
- Complexity of familial Mediterranean fever genetics.European journal of rheumatology · 2020Article
- Different pharmaceutical preparations of colchicine for Familial Mediterranean Fever: are they the same?Rheumatology international · 2020Article
- Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.Mediators of inflammation · 2019Review
- Prevalence of MEFV gene mutations in a large cohort of patients with suspected familial Mediterranean fever in Central Anatolia.Annals of Saudi medicineArticle
Corrections and comments
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Authors and funding
28 authors at 11 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveFamilial Mediterranean fever (FMF) is the most common autoinflammatory disease. Most of the identified disease-causing mutations are located on exon 10. As the number of studies about the effect of the exonal location of the mutation and its phenotypic expression is limited, we aimed to investigate whether the exonic location of the Mediterranean fever (MEFV) mutation has an effect on the clinical manifestation in patients with FMF.
methodsStudy population was derived from the main FMF registry that included 2246 patients from 15 different rheumatology clinics. We categorized the mutations according to their exon locations and retrieved the clinical and demographic information from the database.
resultsPatients having the MEFV mutations on exon 2 or 10 (n:1526) were divided into three subgroups according to the location of the MEFV mutations: Group 1 (exon 2 mutations), Group 2 (exon 10 mutations), and Group 3 (both exon 2 and exon 10 mutations). Group 2 patients were of a significantly younger age at onset, and erysipel-like erythema, arthritis, amyloidosis, and a family history of FMF were more common in this group.
conclusionPatients with FMF and exon 10 mutations show more severe clinical symptoms and outcome. Exon 2 mutations tend to have a better outcome.
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Registered trials
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