ArticleAnnals of the rheumatic diseases2020
Blood-based test for diagnosis and functional subtyping of familial Mediterranean fever.
Article in Annals of the rheumatic diseases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 26 papers.
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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.
Effects of Personalized Dietary and Lifestyle Treatments on the Reduction of Cardiovascular and Metabolic Risk in Overweight and Obese Patients
De-Risking Metabolic, Environmental and Behavioral Determinants of Obesity in Children, Adolescents and Young Adults
Who cites it
26 citing papers in PubMed, 49 citations in OpenAlex.
- Decoding variants of uncertain significance in systemic autoinflammatory diseases.Nature reviews. Rheumatology · 2026Review
- Before calling it FMF: MEFV variants of uncertain significance in autoinflammatory disease.Rheumatology (Oxford, England) · 2026Article
- Familial Mediterranean Fever and the Gut Microbiota: A Dual Perspective Review of Current Evidence.Mediterranean journal of rheumatology · 2026Review
- Familial Mediterranean Fever: A Comprehensive Review of Pathogenesis, Genetics, and Epigenetic Regulation.Balkan medical journal · 2026Review
- Clinical description, genetic analysis and characterization of two NLRP12 heterozygous VUS variants.Frontiers in immunology · 2026Article
- Unresolved Issues in Familial Mediterranean Fever: Is p.R202Q MEFV Variant Potentially Pathogenetic in Unleashing Inflammation?Journal of clinical immunology · 2025Article
- Acute Parotitis due to Familial Mediterranean Fever: A Case Report.Clinical pediatrics · 2025Article
- Background and Clinical Features of a Unique and Mysterious Autoinflammatory Disease, Schnitzler Syndrome.International journal of molecular sciences · 2025Review
- A semi-automated ASC speck assay to evaluate pyrin inflammasome activation.Clinical & translational immunology · 2025Article
- New and future perspectives in familial Mediterranean fever and other autoinflammatory diseases.Archives of rheumatology · 2024Article
- Pyrin Inflammasome Activation Defines Colchicine-Responsive SURF Patients from FMF and Other Recurrent Fevers.Journal of clinical immunology · 2024Article
- Genotype Mutations in Palestinian Children with Familial Mediterranean Fever: Clinical Profile, and Response to Colchicine Treatment: A Retrospective Cohort Study.Mediterranean journal of rheumatology · 2023Article
- Assessment of Serum Resistin and Plasma Calprotectin Levels as Biomarkers of Inflammation in Patients with Familial Mediterranean Fever Disease.Mediterranean journal of rheumatology · 2022Article
- The unsolved mystery of MEFV variants variable expressivity in Familial Mediterranean Fever.Internal and emergency medicine · 2022Article
- A recurrent side-changing febrile pleural effusion revealing familial Mediterranean fever: a case report.The Pan African medical journal · 2022Article
- Induced Pluripotent Stem Cell-Derived Monocytes/Macrophages in Autoinflammatory Diseases.Frontiers in immunology · 2022Review
- Phenotypic characterization of Familial Mediterranean Fever patients harboring variants of uncertain significanceTurkish journal of medical sciences · 2021Article
- Rapid Flow Cytometry-Based Assay for the Functional Classification of MEFV Variants.Journal of clinical immunology · 2021Article
- Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.Nature reviews. Rheumatology · 2021Review
- Evaluation of serum CXC chemokine ligand 16 (CXCL16) as a novel inflammatory bio- marker or familial Mediterranean fever diseaseTurkish journal of medical sciences · 2021Article
Corrections and comments
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Authors and funding
23 authors at 7 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND AND
objectiveFamilial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease (AID) worldwide. The disease is caused by mutations in the
methodsPeripheral blood mononuclear cells (PBMCs) were obtained from patients with Pyrin-associated autoinflammation with an FMF phenotype (n=43) or with autoinflammatory features not compatible with FMF (n=8), 10 asymptomatic carriers and 48 healthy donors. Sera were obtained from patients with distinct AIDs (n=10), and whole blood from a subset of patients and controls. The clinical, demographic, molecular genetic factors and other characteristics of the patient population were assessed for their impact on the diagnostic test read-out. Interleukin (IL)-1β and IL-18 levels were measured by Luminex assay.
resultsThe ex vivo colchicine assay may be performed on whole blood or PBMC. The functional assay robustly segregated patients with FMF from healthy controls and patients with related clinical disorders. The diagnostic test distinguished patients with classical FMF mutations (M694V, M694I, M680I, R761H) from patients with other
conclusionThe ex vivo colchicine assay may support diagnosis of FMF and functional subtyping of Pyrin-associated autoinflammation.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.