Search results for " autoinflammatory disease"

showing 4 items of 14 documents

Il Manifesto delle malattie autoinfiammatorie rare: uno strumento educazionale per promuovere la conoscenza e migliorare la gestione di queste malatt…

2021

Settore MED/38 - Pediatria Generale E Specialisticamalattie autoinfiammatorie rare manifesto Rare Autoinflammatory Disease Council
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Ankylosing spondylitis: an autoimmune or autoinflammatory disease?

2021

Ankylosing spondylitis (AS) is a chronic inflammatory disease with hallmarks of both autoimmune and autoinflammatory pathology. In this Review, the authors examine the evidence for both disease processes and aim to reconcile the two.Ankylosing spondylitis (AS) is a chronic inflammatory disorder of unknown aetiology. Unlike other systemic autoimmune diseases, in AS, the innate immune system has a dominant role characterized by aberrant activity of innate and innate-like immune cells, including gamma delta T cells, group 3 innate lymphoid cells, neutrophils, mucosal-associated invariant T cells and mast cells, at sites predisposed to the disease. The intestine is involved in disease manifesta…

T cellInflammationmedicine.disease_causeAutoimmune DiseaseAutoimmunityAutoimmune Diseases03 medical and health sciences0302 clinical medicineImmune systemRheumatologyMedicineAnimalsHumansSpondylitis Ankylosing030203 arthritis & rheumatologyInnate immune systembiologybusiness.industryAnimalInnate lymphoid cellHereditary Autoinflammatory DiseasesAutoantibodyHereditary Autoinflammatory Diseasemedicine.anatomical_structureImmunologybiology.proteinAntibodymedicine.symptombusiness030215 immunologyHuman
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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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INSAID Variant Classification and Eurofever Criteria Guide Optimal Treatment Strategy in Patients with TRAPS: Data from the Eurofever Registry

2021

Contains fulltext : 231528.pdf (Publisher’s version ) (Closed access) BACKGROUND: TNF receptor-associated periodic syndrome (TRAPS) is a rare autoinflammatory disease caused by dominant mutation of the TNF super family receptor 1A (TNFRSF1A) gene. Data regarding long-term treatment outcomes are lacking. OBJECTIVE: To assess correlations of genotype-phenotypes in patients with TRAPS, as defined by the International Study Group for Systemic Autoinflammatory Diseases (INSAID) classification and Eurofever criteria, with treatment responses. METHODS: Data from 226 patients with variants of the TNFRSF1A gene and enrolled in the Eurofever registry were classified according to the INSAID classifica…

medicine.medical_specialtyAbdominal painAutoinflammatory diseasesGroup AGroup BAA amyloidosis Anakinra Autoinflammatory diseases Colchicine TRAPS Abdominal Pain Colchicine FemaleHumans Mutation Registries Hereditary Autoinflammatory Diseases03 medical and health sciences0302 clinical medicineSettore MED/38 - Pediatria Generale E SpecialisticaAA amyloidosisTNF receptor-associated periodic syndrome (TRAPS) ; TNFRSF1A geneInternal medicinemedicineAA amyloidosisHumansImmunology and AllergyIn patientRegistries030212 general & internal medicineLikely pathogenicAnakinrabusiness.industryHereditary Autoinflammatory DiseasesTRAPSmedicine.diseaseAbdominal PainAnakinra030228 respiratory systemTNF receptor associated periodic syndromeMutationFemalemedicine.symptombusinessColchicineAA amyloidosis; Anakinra; Autoinflammatory diseases; Colchicine; TRAPSInflammatory diseases Radboud Institute for Molecular Life Sciences [Radboudumc 5]medicine.drug
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