Search results for "Autoinflammatory diseases"

showing 8 items of 18 documents

Development and Implementation of the AIDA International Registry for Patients With VEXAS Syndrome

2022

ObjectiveThe aim of this paper is to present the AutoInflammatory Disease Alliance (AIDA) international Registry dedicated to Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic (VEXAS) syndrome, describing its design, construction, and modalities of dissemination.MethodsThis Registry is a clinical, physician-driven, population- and electronic-based instrument designed for the retrospective and prospective collection of real-life data. Data gathering is based on the Research Electronic Data Capture (REDCap) tool and is intended to obtain real-world evidence for daily patients' management. The Registry may potentially communicate with other on-line tools dedicated to VEXAS syndrome, thu…

RegistryKeywords: autoinflammatory diseases; clinical management; precision medicine; rare diseases; research; treatment.Settore MED/16 - REUMATOLOGIAresearchtreatmentprecision medicinerare diseasesrare diseaseGeneral Medicineautoinflammatory diseasestreatment.Settore MED/38 - Pediatria Generale E Specialisticaautoinflammatory diseaseVEXAS syndromeclinical managementHuman medicineKeywords: autoinflammatory diseases
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Development and Implementation of the AIDA International Registry for Patients With Undifferentiated Systemic AutoInflammatory Diseases

2022

ObjectiveThis paper points out the design, development and deployment of the AutoInflammatory Disease Alliance (AIDA) International Registry dedicated to pediatric and adult patients affected by Undifferentiated Systemic AutoInflammatory Diseases (USAIDs).MethodsThis is an electronic registry employed for real-world data collection about demographics, clinical, laboratory, instrumental and socioeconomic data of USAIDs patients. Data recruitment, based on the Research Electronic Data Capture (REDCap) tool, is designed to obtain standardized information for real-life research. The instrument is endowed with flexibility, and it could change over time according to the scientific acquisitions an…

RegistrySettore MED/16 - REUMATOLOGIAprecision medicinerare diseasesGeneral Medicinepersonalized medicineautoinflammatory diseasesInternational RegistrySettore MED/38 - Pediatria Generale E Specialisticaautoinflammatory diseaseAutoinflammationHuman medicineInternational Registry; autoinflammatory diseases; personalized medicine; precision medicine; rare diseasesautoinflammatory diseases; International Registry; personalized medicine; precision medicine; rare diseases
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Development and implementation of the AIDA international registry for patients with Still's disease

2022

ObjectiveAim of this paper is to present the design, construction, and modalities of dissemination of the AutoInflammatory Disease Alliance (AIDA) International Registry for patients with systemic juvenile idiopathic arthritis (sJIA) and adult-onset Still's disease (AOSD), which are the pediatric and adult forms of the same autoinflammatory disorder.MethodsThis Registry is a clinical, physician-driven, population- and electronic-based instrument implemented for the retrospective and prospective collection of real-world data. The collection of data is based on the Research Electronic Data Capture (REDCap) tool and is intended to obtain evidence drawn from routine patients' management. The co…

RegistrySettore MED/16 - REUMATOLOGIAresearchtreatmentprecision medicinerare diseasesGeneral Medicinepersonalized medicineautoinflammatory diseasesSettore MED/38 - Pediatria Generale E Specialisticaautoinflammatory diseases personalized medicine precision medicine rare diseases research treatmentStill's diseaseautoinflammatory diseases; personalized medicine; precision medicine; rare diseases; research; treatmentHuman medicine
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The AutoInflammatory Diseases Alliance Registry of monogenic autoinflammatory diseases

2022

ObjectiveThe present manuscript aims to describe an international, electronic-based, user-friendly and interoperable patient registry for monogenic autoinflammatory diseases (mAIDs), developed in the contest of the Autoinflammatory Diseases Alliance (AIDA) Network.MethodsThis is an electronic platform, based on the Research Electronic Data Capture (REDCap) tool, used for real-world data collection of demographics, clinical, laboratory, instrumental and socioeconomic data of mAIDs patients. The instrument has flexibility, may change over time based on new scientific acquisitions, and communicate potentially with other similar registries; security, data quality and data governance are corner …

RegistrySettore MED/38 - Pediatria Generale E SpecialisticaSettore MED/16 - REUMATOLOGIAautoinflammatory diseaseprecision medicineAutoinflammatory diseasesrare diseasesHuman medicinepersonalized medicineGeneral Medicinerare diseases.autoinflammatory diseases; international registry; personalized medicine; precision medicine; rare diseasesinternational registry
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Development and implementation of the AIDA International Registry for patients with Periodic Fever, Aphthous stomatitis, Pharyngitis, and cervical Ad…

2022

ObjectiveAim of this paper is to illustrate the methodology, design, and development of the AutoInflammatory Disease Alliance (AIDA) International Registry dedicated to patients with the Periodic Fever, Aphthous stomatitis, Pharyngitis, and cervical Adenitis (PFAPA) syndrome.MethodsThis is a physician-driven, non-population- and electronic-based registry proposed to gather real-world demographics, clinical, laboratory, instrumental and socioeconomic data from PFAPA patients. Data recruitment is realized through the on-line Research Electronic Data Capture (REDCap) tool. This registry is thought to collect standardized information for clinical research leading to solid real-life evidence. Th…

Registryrare disease.PFAPA syndrome; autoinflammatory diseases; international registry; personalized medicine; precision medicine; rare diseaseprecision medicinerare diseaseautoinflammatory diseases; international registry; personalized medicine; PFAPA syndrome; precision medicine; rare diseasepersonalized medicineautoinflammatory diseasesSettore MED/38 - PEDIATRIA GENERALE E SPECIALISTICAautoinflammatory diseasePediatrics Perinatology and Child HealthHuman medicineinternational registryPFAPA syndrome
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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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