ArticleJournal of clinical laboratory analysis2019
Clinical features and disease severity of Turkish FMF children carrying E148Q mutation.
Article in Journal of clinical laboratory analysis, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 40 citations in OpenAlex.
- The clinical significance of heterozygous E148Q variant in patients with familial Mediterranean fever.Clinical rheumatology · 2026Article
- Dilemma between knife and needle for acute abdominal pain in familial Mediterranean fever: Two case reports and literature review.World journal of clinical pediatrics · 2026Article
- Before calling it FMF: MEFV variants of uncertain significance in autoinflammatory disease.Rheumatology (Oxford, England) · 2026Article
- Relationship Between Clinical Manifestations of Acute Rheumatic Fever and Mutations in the FMF-AssociatedChildren (Basel, Switzerland) · 2026Article
- Insights into familial Mediterranean fever: Chronic disease correlations with arthralgia and current health status of patients with familial Mediterranean fever in Jordan.Rheumatology and immunology research · 2025Article
- Increasing Importance of Genotype-Phenotype Correlations Associated with Common and Rare MEFV Gene Mutations in FMF Patients in the Last Thirty Years.Journal of clinical medicine · 2025Article
- E148Q variant: a familial Mediterranean fever-causing mutation or a sequence variant?European journal of pediatrics · 2024Article
- Genetically transitional disease: conceptual understanding and applicability to rheumatic disease.Nature reviews. Rheumatology · 2024Review
- Very-early-onset Inflammatory Bowel Disease in an Infant with a Partial RIPK1 Deletion.Journal of clinical immunology · 2024Article
- Implications of combinedFrontiers in immunology · 2023Article
- A case report of a boy suffering from type 1 diabetes mellitus and familial Mediterranean fever.Italian journal of pediatrics · 2021Article
- Performance of the new Eurofever/PRINTO classification criteria in Familial Mediterranean fever patients with a single exon 10 mutation in childhood.Rheumatology international · 2021Article
- Genotype Mutations in Egyptian Children with Familial Mediterranean Fever: Clinical Profile, and Response to Colchicine.Mediterranean journal of rheumatology · 2020Article
- Clinical features and disease severity of Turkish FMF children carrying E148Q mutation.Journal of clinical laboratory analysis · 2019Article
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFamilial Mediterranean fever (FMF) is the most common hereditary monogenic autoinflammatory disease caused by mutations in the MEFV gene. It is controversial whether E148Q alteration is an insignificant variant or a disease-causing mutation. The aim of this study was to evaluate the clinical features and disease severity of FMF patients carrying E148Q mutation.
methodsFiles of FMF patients were retrospectively evaluated. Patients with at least one E148Q mutation were included to the study. The clinical characteristics and disease severity of the patients who were carrying only E148Q mutation were compared with the patients who were compound heterozygous for E148Q and homozygous for M694V mutation.
resultsThe study group comprised 33 patients who were homozygous or heterozygous for E148Q; 34 with compound heterozygous E148Q mutations and 86 patients who had homozygous M694V mutation. Patients who had only E148Q mutation were found to have the oldest mean age of disease onset and lowest mean disease severity score. Attack frequency and colchicine doses were lower in patients with only E148Q mutation as compared with the other two groups. The frequency of clinical findings such as fever, abdominal pain, arthralgia, and arthritis among the three groups was similar.
conclusionFamilial Mediterranean fever patients with only E148Q mutation are presenting with late-onset and milder disease course despite having similar clinical findings as compared with patients who had other mutations. Finally, we imply that E148Q is a mutation and colchicine treatment should be given.
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