GuidelineAnnals of the rheumatic diseases2012
Guidelines for the genetic diagnosis of hereditary recurrent fevers.
Guideline in Annals of the rheumatic diseases, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 73 papers, 2 of them syntheses that pooled it.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
73 citing papers in PubMed, 2 syntheses or guidelines pooled it, 197 citations in OpenAlex.
- Mevalonate kinase deficiency: an updated clinical overview and revision of the SHARE recommendations.Frontiers in immunology · 2024Pooled 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
- Australasian Society of Clinical Immunology and Allergy consensus statement on IEI molecular diagnosis.Journal of human immunity · 2026Review
- Identification of pathogenicJournal of rheumatic diseases · 2025Article
- Elderly-onset Familial Mediterranean Fever Carrying MEFV Exon 10 Variants in a Japanese Patient.Internal medicine (Tokyo, Japan) · 2025Article
- Familial Mediterranean Fever; Recent Advances, Future Prospectives.Diagnostics (Basel, Switzerland) · 2025Review
- Mechanisms of NLRP3 activation and inhibition elucidated by functional analysis of disease-associated variants.Nature immunology · 2025Article
- Exploring the Role of MEFV Gene Mutations in Pediatric Drug-Resistant Epilepsy.Iranian journal of child neurology · 2025Article
- Characterizing Protracted Febrile Myalgia: Fasciitis and Vasculitis of the Fascia and Muscle as Novel Histopathological Features.Journal of clinical medicine · 2024Article
- Molecular analyses of MEFV gene mutation variants in Turkish population.Molecular biology reports · 2024Article
- Genetically transitional disease: conceptual understanding and applicability to rheumatic disease.Nature reviews. Rheumatology · 2024Review
- A rare missense p.C125Y mutation in theFrontiers in genetics · 2024Article
- Molecular genetics in adult-onset Still's disease: next-generation sequencing in 24 patients and literature review.Frontiers in immunology · 2024Observational
- Concurrence of familial Mediterranean fever and Behçet's disease: a case report and review of the literature.Journal of medical case reports · 2023Review
- Treat-to-target strategies for the management of familial Mediterranean Fever in children.Pediatric rheumatology online journal · 2023Article
- An Update on Familial Mediterranean Fever.International journal of molecular sciences · 2023Review
- Identification of a variant in NLRP3 gene in a patient with Muckle-Wells syndrome: a case report and review of literature.Pediatric rheumatology online journal · 2023Review
- The genetic and clinical characteristics and effects of Canakinumab on cryopyrin-associated periodic syndrome: a large pediatric cohort study from China.Frontiers in immunology · 2023Article
- Recurrent Fever with Oral Lesions in Egyptian Children: A Familial Mediterranean Fever Diagnosis Not to Be Missed.Children (Basel, Switzerland) · 2022Article
- Familial Mediterranean Fever: How to Interpret Genetic Results? How to Treat? A Quarter of a Century After the Association with the Mefv Gene.Current rheumatology reports · 2022Review
13 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
26 authors at 20 institutions in 16 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary recurrent fevers (HRFs) are a group of monogenic autoinflammatory diseases characterised by recurrent bouts of fever and serosal inflammation that are caused by pathogenic variants in genes important for the regulation of innate immunity. Discovery of the molecular defects responsible for these diseases has initiated genetic diagnostics in many countries around the world, including the Middle East, Europe, USA, Japan and Australia. However, diverse testing methods and reporting practices are employed and there is a clear need for consensus guidelines for HRF genetic testing. Draft guidelines were prepared based on current practice deduced from previous HRF external quality assurance schemes and data from the literature. The draft document was disseminated through the European Molecular Genetics Quality Network for broader consultation and amendment. A workshop was held in Bruges (Belgium) on 18 and 19 September 2011 to ratify the draft and obtain a final consensus document. An agreed set of best practice guidelines was proposed for genetic diagnostic testing of HRFs, for reporting the genetic results and for defining their clinical significance.
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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.