0000000000949393

AUTHOR

Brigitte Bader-meunier

showing 4 related works from this author

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.

2014

The type I interferon system is integral to human antiviral immunity. However, inappropriate stimulation or defective negative regulation of this system can lead to inflammatory disease. We sought to determine the molecular basis of genetically uncharacterized cases of the type I interferonopathy Aicardi-Goutières syndrome, and of other patients with undefined neurological and immunological phenotypes also demonstrating an upregulated type I interferon response. We found that heterozygous mutations in the cytosolic double-stranded RNA receptor gene IFIH1 (MDA5) cause a spectrum of neuro-immunological features consistently associated with an enhanced interferon state. Cellular and biochemica…

Models MolecularInterferon-Induced Helicase IFIH1Molecular Sequence DataHDE NEU PEDElectrophoretic Mobility Shift AssayBiologymedicine.disease_causeNervous System MalformationsReal-Time Polymerase Chain ReactionArticleDEAD-box RNA HelicasesImmune systemAutoimmune Diseases of the Nervous SystemDownregulation and upregulationAnalysis of Variance; Autoimmune Diseases of the Nervous System; Base Sequence; DEAD-box RNA Helicases; Electrophoretic Mobility Shift Assay; Exome; HEK293 Cells; Humans; Interferon Type I; Microsatellite Repeats; Molecular Sequence Data; Mutation; Nervous System Malformations; Real-Time Polymerase Chain Reaction; Sequence Analysis DNA; Signal Transduction; Spectrum Analysis; Models Molecular; Phenotype; GeneticsModelsInterferonGeneticsmedicineHumansExomeMutationAnalysis of VarianceBase SequenceSpectrum AnalysisMolecularRNAMDA5DNASequence Analysis DNAMolecular biology3. Good healthInterferon Tipo IHEK293 CellsPhenotypeInterferon Type IMutationCancer researchSignal transductionSequence AnalysisInterferon type Imedicine.drugMicrosatellite RepeatsSignal TransductionNature genetics
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Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part one

2017

lcsh:Diseases of the musculoskeletal systemlcsh:RJ1-570lcsh:Pediatricslcsh:RC925-935Meeting Abstracts
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Etanercept treatment for extended oligoarticular juvenile idiopathic arthritis, enthesitis-related arthritis, or psoriatic arthritis : 6-year efficac…

2019

Background To describe the 6-year safety and efficacy of etanercept (ETN) in children with extended oligoarticular juvenile idiopathic arthritis (eoJIA), enthesitis-related arthritis (ERA), and psoriatic arthritis (PsA) Methods Patients who completed the 2-year, open-label, phase III CLinical Study In Pediatric Patients of Etanercept for Treatment of ERA, PsA, and Extended Oligoarthritis (CLIPPER) were allowed to enroll in its 8-year long-term extension (CLIPPER2). Children received ETN at a once-weekly dose of 0.8 mg/kg, up to a maximum dose of 50 mg/week. Efficacy assessments included the JIA core set of outcomes, the JIA American College of Rheumatology response criteria (JIA-ACR), and t…

Malelcsh:Diseases of the musculoskeletal systemArthritisCHILDRENCATEGORIESDISEASE-ACTIVITYEtanerceptEtanerceptEnthesitis-related arthritis (ERA)Juvenile Arthritis Disease Activity ScoreDOUBLE-BLINDINITIATIONNECROSIS-FACTORDEFINING CRITERIAMedicine and Health SciencesMedicineChildNon-U.S. Gov'tClinical trial; Efficacy; Enthesitis-related arthritis; Enthesitis-related arthritis (ERA); Etanercept; Extended oligoarticular juvenile idiopathic arthritis (eoJIA); Juvenile idiopathic arthritis; Psoriatic arthritis (PsA); SafetyOligoarthritisResearch Support Non-U.S. Gov'tMETHOTREXATEClinical trialTreatment OutcomeAntirheumatic AgentsChild PreschoolFemaleSafetymedicine.drugResearch Articlemedicine.medical_specialtyAdolescentEfficacyEnthesitis-related arthritisResearch SupportPsoriatic arthritisPsoriatic arthritis (PsA)Internal medicineAdalimumabJournal ArticleHumansetanercept ; juvenile idiopathic arthritis ; enthesitis-related arthritis ; extended oligoarticular juvenile idiopathic arthritis (eoJIA) ; enthesitis-related arthritis (ERA) ; psoriatic arthritis (PsA) ; efficacy ; safety ; clinical trialPEDIATRIC-PATIENTSbusiness.industryJuvenile idiopathic arthritismedicine.diseaseRheumatologyArthritis JuvenileOligoarticular Juvenile Idiopathic Arthritislcsh:RC925-935Extended oligoarticular juvenile idiopathic arthritis (eoJIA)businessADALIMUMAB
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Additional file 1: of Etanercept treatment for extended oligoarticular juvenile idiopathic arthritis, enthesitis-related arthritis, or psoriatic arth…

2019

Table S1. Summary of missing data imputation methods for the responder analysis. Table S2. Disease activity and patient-reported outcomes (observed cases). Table S3. Outcomes specific for enthesitis-related arthritis and psoriatic arthritis (observed cases). Table S4. The most frequent TEAEs, excluding infections and injection site reactions (> 5% in any JIA subtype, by System Organ Class). Figure S1. ACR30–100 and JIA inactive disease response rates (OC vs NRI). Additional Tables (A1 to A4) and Figure A1 related to missing data imputation based on patients’ enrolment status, trial period at cut-off date, and reasons for permanent discontinuation. (DOCX 224 kb)

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