ArticleOrphanet journal of rare diseases2017
A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry.
Article in Orphanet journal of rare diseases, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 3 of them syntheses that pooled it.
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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
31 citing papers in PubMed, 3 syntheses or guidelines pooled it, 70 citations in OpenAlex.
- Mevalonate kinase deficiency: an updated clinical overview and revision of the SHARE recommendations.Frontiers in immunology · 2024Pooled it
- The 2021 EULAR/American College of Rheumatology Points to Consider for Diagnosis, Management and Monitoring of the Interleukin-1 Mediated Autoinflammatory Diseases: Cryopyrin-Associated Periodic Syndromes, Tumour Necrosis Factor Receptor-Associated Periodic Syndrome, Mevalonate Kinase Deficiency, and Deficiency of the Interleukin-1 Receptor Antagonist.Arthritis & rheumatology (Hoboken, N.J.) · 2022Pooled it
- Consensus protocols for the diagnosis and management of the hereditary autoinflammatory syndromes CAPS, TRAPS and MKD/HIDS: a German PRO-KIND initiative.Pediatric rheumatology online journal · 2020Guideline
- Myopathy and ataxia related to impaired mitochondrial function in mevalonate kinase deficiency.Orphanet journal of rare diseases · 2026Article
- Syndrome of undifferentiated recurrent fever (SURF): a multicenter real-world experience from Türkiye.Clinical rheumatology · 2025Observational
- Long-Term Safety and Effectiveness of Canakinumab in Patients with MKD/HIDS: Interim Analysis of the RELIANCE Registry.Rheumatology and therapy · 2025Article
- Case Report: A heterozygous mutation of NLRP3 in a Chinese child with NLRP3-AID.Frontiers in pediatrics · 2025Article
- Article
- AA Amyloidosis: A Contemporary View.Current rheumatology reports · 2024Review
- Pyrin variant E148Q potentiates inflammasome activation and the effect of pathogenic mutations in cis.Rheumatology (Oxford, England) · 2024Article
- Phenotype-genotype correlation in children with familial Mediterranean fever in Morocco.Qatar medical journal · 2024Article
- Knowledge and Current Practices in Monogenic Uveitis: An International Survey by IUSG and AIDA Network.Ophthalmology and therapy · 2024Article
- Familial Mediterranean Fever in Spain: Time Trend and Spatial Distribution of the Hospitalizations.International journal of environmental research and public health · 2023Article
- Efficacy of canakinumab on AA amyloidosis in late-onset NLRP3-associated autoinflammatory disease with an I574F somatic mosaic mutation.Clinical rheumatology · 2022Review
- Systemic Autoinflammatory Diseases: A Growing Family of Disorders of Overlapping Immune Dysfunction.Rheumatic diseases clinics of North America · 2022Review
- Case Report: A Pediatric Case of Familial Mediterranean Fever Concurrent With Autoimmune Hepatitis.Frontiers in immunology · 2022Article
- Adherence to best practice consensus guidelines for familial Mediterranean fever: a modified Delphi study among paediatric rheumatologists in Turkey.Rheumatology international · 2022Observational
- Development and Implementation of the AIDA International Registry for Patients With VEXAS Syndrome.Frontiers in medicine · 2022Article
- Pediatric uveitis: Role of the pediatrician.Frontiers in pediatrics · 2022Review
- Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.Nature reviews. Rheumatology · 2021Review
Corrections and comments
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Authors and funding
27 authors at 16 institutions in 11 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHereditary recurrent fevers (HRF) are a group of rare monogenic diseases leading to recurrent inflammatory flares. A large number of variants has been described for the four genes associated with the best known HRF, namely MEFV, NLRP3, MVK, TNFRSF1A. The Infevers database ( http://fmf.igh.cnrs.fr/ISSAID/infevers ) is a large international registry collecting variants reported in these genes. However, no genotype-phenotype associations are provided, but only the clinical phenotype of the first patient(s) described for each mutation. The aim of this study is to develop a registry of genotype-phenotype associations observed in patients with HRF, enrolled and validated in the Eurofever registry.
resultsGenotype-phenotype associations observed in all the patients with HRF enrolled in the Eurofever registry were retrospectively analyzed. For autosomal dominant diseases (CAPS and TRAPS), all mutations were individually analyzed. For autosomal recessive diseases (FMF and MKD), homozygous and heterozygous combinations were described. Mean age of onset, disease course (recurrent or chronic), mean duration of fever episodes, clinical manifestations associated with fever episodes, atypical manifestations, complications and response to treatment were also studied. Data observed in 751 patients (346 FMF, 133 CAPS, 114 MKD, 158 TRAPS) included in the Eurofever registry and validated by experts were summarized in Tables. A total of 149 variants were described: 46 TNFRSF1A and 27 NLRP3 variants, as well as various combinations of 48 MVK and 28 MEFV variants were available.
conclusionsWe provide a potentially useful tool for physicians dealing with HRF, namely a registry of genotype-phenotype associations for patients enrolled in the Eurofever registry. This tool is complementary to the Infevers database and will be available at the Eurofever and Infevers websites.
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