ReviewZeitschrift fur Rheumatologie2017
[Role of genetics in familial Mediterranean fever].
Review in Zeitschrift fur Rheumatologie, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it.
- [Results of the systematic literature search as basis for the "Evidence-based treatment recommendations for familial Mediterranean fever patients with insufficient response or intolerability to colchicine" of the Society for Pediatric and Adolescent Rheumatology and the German Society for Rheumatology].Zeitschrift fur Rheumatologie · 2020Pooled it
- [An unusual cause for kidney transplantation].Innere Medizin (Heidelberg, Germany) · 2026Article
- Article
- [Genetic diagnostics in fever syndromes].Zeitschrift fur Rheumatologie · 2025Review
- [The most frequent febrile syndromes and autoinflammatory diseases in adulthood].Zeitschrift fur Rheumatologie · 2024Review
- [Autoinflammatory syndromes].Zeitschrift fur Rheumatologie · 2023Review
- [Autoinflammatory syndromes].Innere Medizin (Heidelberg, Germany) · 2023Article
- [Autoinflammation-differences between children and adults].Zeitschrift fur Rheumatologie · 2022Review
- [Classification of autoinflammatory diseases based on pathophysiological mechanisms].Zeitschrift fur Rheumatologie · 2020Review
- [Clinical symptoms of autoinflammatory diseases].Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete · 2020Review
- Spectrum of Genetic Autoinflammatory Diseases Presenting with Cutaneous Symptoms.Acta dermato-venereologica · 2020Review
- [Evidence-based treatment recommendations for familial Mediterranean fever : A joint statement by the Society for Pediatric and Adolescent Rheumatology and the German Society for Rheumatology].Zeitschrift fur Rheumatologie · 2019Review
- Novel Deleterious nsSNPs withinAdvances in bioinformatics · 2019Article
- IL1-blocking therapy in colchicine-resistant familial Mediterranean fever.European journal of rheumatology · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial Mediterranean fever (FMF) is caused by mutations within the Mediterranean fever (MEFV) gene. These gain of function mutations lead to an increased activation of the inflammasome pyrin with a subsequent disproportional proinflammatory reaction. Classically, in FMF patients two pathogenic mutations affecting both alleles are found in the molecular genetic analysis; however, it is well known that the phenotype can also be caused either by mutations with lower penetrance or unknown significance. Furthermore, in a significant number of patients only one or even no MEFV mutations can be detected. Heterozygous mutation carriers who do not suffer from classical FMF, can also present with other signs of inflammation, e. g. subclinical increased inflammation markers, associated inflammatory diseases or unclassified symptoms. Thus, FMF does not follow a classical autosomal recessive inheritance and a variable gene dose effect has to be considered, which is furthermore modulated by other mostly unknown genetic variants and environmental factors. This article summarizes the broad spectrum of clinical presentations associated with MEFV mutations and analyzes the effect of the gene dose on the phenotypical expression. Furthermore, the impact of the molecular genetic analysis on the diagnostics of a patient and on the individualized management of the disease is discussed.
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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.