The NLRP3 p.A441V Mutation in NLRP3-AID Pathogenesis: Functional Consequences, Phenotype-Genotype Correlations and Evidence for a Recurrent Mutational Event.
Fawaz AwadEman AssrawiClaire JumeauSylvie OdentVeronique DespertGérard CamAleth PerdrigerCamille LouvrierLaetitia CobretBruno CopinSandra Chantot-BastaraudPhilippe DuquesnoyWilliam PiterbothClaire Le JeunneGenevieve Quenum-MirailletJean Pierre SiffroiSophie Georgin-LavialleGilles GrateauMarie LegendreIrina GiurgeaSonia-Athina KarabinaSerge AmselemPublished in: ACR open rheumatology (2019)
These molecular and cellular findings, which indicate a recurrent mutational event, clearly demonstrate the pathogenicity of the p.A441V missense mutation in NLRP3-associated autoinflammatory disease and point to the interest of studying patients' primary cells to assess disease activity.
Keyphrases
- disease activity
- rheumatoid arthritis
- systemic lupus erythematosus
- end stage renal disease
- induced apoptosis
- rheumatoid arthritis patients
- ankylosing spondylitis
- newly diagnosed
- ejection fraction
- chronic kidney disease
- nlrp inflammasome
- prognostic factors
- peritoneal dialysis
- intellectual disability
- escherichia coli
- cystic fibrosis
- signaling pathway
- single molecule
- cell proliferation
- endoplasmic reticulum stress
- patient reported outcomes
- biofilm formation
- pseudomonas aeruginosa
- patient reported
- candida albicans