Search results for "Recurrent fever"

showing 4 items of 4 documents

A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry

2017

PubMed ID: 29047407

lcsh:MedicineFamilial Mediterranean feverCaps; Eurofever; FMF; Genotype-phenotype associations; Hereditary recurrent fevers; Infevers; MKD; Traps; Databases Genetic; Europe; Hereditary Autoinflammatory Diseases; Humans; Retrospective Studies; Genetic Association Studies; Registries0302 clinical medicineHereditary recurrent feverInfeversDatabases GeneticPharmacology (medical)030212 general & internal medicineRegistriesGenetics (clinical)EurofeverGeneral MedicineMEFVResponse to treatmentCapHereditary recurrent fevers3. Good healthGenotype-phenotype associationTrapEuropeComputingMilieux_MANAGEMENTOFCOMPUTINGANDINFORMATIONSYSTEMSInformationSystems_MISCELLANEOUSInflammatory diseases Radboud Institute for Molecular Life Sciences [Radboudumc 5]medicine.medical_specialtyGenotype-Phenotype AssociationInfever03 medical and health sciencesDatabasesFMFGeneticInternal medicineJournal ArticlemedicineHumansHereditary Recurrent FeversIn patientMKDTrapsGenetic Association StudiesRetrospective Studies030203 arthritis & rheumatologyGenotype-phenotype associationsbusiness.industryResearchlcsh:RComputerSystemsOrganization_COMPUTER-COMMUNICATIONNETWORKSHereditary Autoinflammatory DiseasesRetrospective cohort studymedicine.diseaseHuman geneticsComputingMethodologies_PATTERNRECOGNITIONCapsbusinessCaps; Eurofever; FMF; Genotype-phenotype associations; Hereditary recurrent fevers; Infevers; MKD; Traps; Genetics (clinical); Pharmacology (medical)
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The impact of the Eurofever criteria and the new Infevers MEFV classification in real life: results from a large international FMF cohort

2022

INTRODUCTION: New Eurofever/PRINTO classification criteria (EPCC) for Familial Mediterranean Fever (FMF) and other recurrent fevers have been recently developed, together with the classification of the pathogenicity of MEFV variants. OBJECTIVES: To evaluate the impact in real life of both the EPCC and INSAID pathogenicity classification of MEFV variants in the large international Eurofever FMF cohort. METHODS: Baseline demographic, genetic and clinical data of FMF patients included in the Eurofever registry were evaluated. The EPCC and the 2018 INSAID classification for MEFV variants were applied in all eligible FMF patients. RESULTS: Since November 2009, clinical information was available …

Male*Genetic analysis*Autoinflammatory diseasesPyrinFamilial Mediterranean fever*Classification criteriaCohort StudiesAnesthesiology and Pain MedicineRheumatologySettore MED/38 - PEDIATRIA GENERALE E SPECIALISTICAMutation*Familial mediterranean feverHumansFemale*RegistryRegistriesAutoinflammatory diseases Classification criteria Familial mediterranean fever Genetic analysis Recurrent fevers Registry Cohort Studies Colchicine Female Humans Male Mutation Pyrin Registries Familial Mediterranean FeverColchicine*Recurrent fevers
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Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes.

2018

BACKGROUND: Familial Mediterranean fever, mevalonate kinase deficiency (also known as the hyperimmunoglobulinemia D syndrome), and the tumor necrosis factor receptor-associated periodic syndrome (TRAPS) are monogenic autoinflammatory diseases characterized by recurrent fever flares. METHODS: We randomly assigned patients with genetically confirmed colchicine-resistant familial Mediterranean fever, mevalonate kinase deficiency, or TRAPS at the time of a flare to receive 150 mg of canakinumab subcutaneously or placebo every 4 weeks. Patients who did not have a resolution of their flare received an add-on injection of 150 mg of canakinumab. The primary outcome was complete response (resolution…

Male0301 basic medicineInterleukin-1betaFamilial Mediterranean fever0302 clinical medicineMonoclonalChildMedicine(all)Mevalonate kinase deficiencySubcutaneousMedicine (all)Interleukin-1betaAntibodies MonoclonalGeneral MedicineFamilial Mediterranean FeverRecurrent feverChild PreschoolFemaleTumor necrosis factor alphaDrugInflammatory diseases Radboud Institute for Molecular Life Sciences [Radboudumc 5]medicine.drugAdultAdolescentFeverInjections SubcutaneousHereditary Autoinflammatory DiseasesAntibodies Monoclonal HumanizedAdolescent; Adult; Antibodies Monoclonal/administration & dosage; Antibodies Monoclonal/adverse effects; Antibodies Monoclonal/therapeutic use; Child; Child Preschool; Dose-Response Relationship Drug; Double-Blind Method; Familial Mediterranean Fever/drug therapy; Female; Fever/drug therapy; Hereditary Autoinflammatory Diseases/drug therapy; Humans; Injections Subcutaneous; Interleukin-1beta/antagonists & inhibitors; Male; Mevalonate Kinase Deficiency/drug therapy; Young AdultAntibodiesInjectionsDose-Response RelationshipYoung Adult03 medical and health sciencesAll institutes and research themes of the Radboud University Medical CenterDouble-Blind MethodGeneral & Internal MedicinemedicineHumansPreschoolAdolescent; Adult; Antibodies Monoclonal; Child; Child Preschool; Dose-Response Relationship Drug; Double-Blind Method; Familial Mediterranean Fever; Female; Fever; Hereditary Autoinflammatory Diseases; Humans; Injections Subcutaneous; Interleukin-1beta; Male; Mevalonate Kinase Deficiency; Young Adult; Medicine (all)030203 arthritis & rheumatologyDose-Response Relationship Drugbusiness.industryHereditary Autoinflammatory DiseasesHyperimmunoglobulinemia Dmedicine.diseaseCanakinumab030104 developmental biologyImmunologyMevalonate Kinase Deficiencybusiness
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The labyrinth of autoinflammatory disorders: a snapshot on the activity of a third-level center in Italy.

2015

Autoinflammatory disorders (AIDs) are a novel class of diseases elicited by mutations in genes regulating the homeostasis of innate immune complexes, named inflammasomes, which lead to uncontrolled oversecretion of the proinflammatory cytokine interleukin-1β. Protean inflammatory symptoms are variably associated with periodic fever, depicting multiple specific conditions. Childhood is usually the lifetime in which most hereditary AIDs start, though still a relevant number of patients may experience a delayed disease onset and receive a definite diagnosis during adulthood. As a major referral laboratory for patients with recurrent fevers, we have tested samples from 787 patients in the perio…

Adultmedicine.medical_specialtyReferralProinflammatory cytokineDiagnosis DifferentialRheumatologyAcquired immunodeficiency syndrome (AIDS)Internal medicinePeriodic feverMedicineHumansAge FactorChildGenetic disorderInnate immune systembusiness.industryHereditary Autoinflammatory DiseasesAge FactorsGeneral Medicinemedicine.diseaseAdulthoodInterleukin-1βRheumatologyImmunity InnateHereditary Autoinflammatory DiseasePeriodic feverSettore MED/38 - PEDIATRIA GENERALE E SPECIALISTICAItalyRecurrent feverImmunologyAutoinflammationbusinessAutoinflammatory DisordersHuman
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