incrementalDiagnostic advance
Genetic overlap between AOSD and hereditary periodic fever syndromes confirmed
Adult-Onset Still's Disease →Summary
Next-generation sequencing studies identified significant enrichment of rare MEFV variants and TNFRSF1A variants in AOSD patients compared to controls. Patients carrying autoinflammatory gene variants were more likely to require biologic therapy, suggesting genetic testing may have prognostic value in guiding treatment decisions.
Related genes
MEFVMultiple variants including common FMF-associated mutations (E148Q, M694V, etc.)
Elevated MEFV variant frequency suggests genetic overlap between AOSD and hereditary periodic fever syndromes, supporting the autoinflammatory disease continuumTNFRSF1ARare variants associated with AOSD
TNFRSF1A is the causative gene for TRAPS (TNF receptor-associated periodic syndrome); its association with AOSD further supports genetic overlap with monogenic autoinflammatory diseasesMore from Adult-Onset Still's Disease
significantnew treatment
Anakinra confirmed superior to DMARDs in systemic AOSD: ANAKINRA-STILLS trial
landmarkDiagnostic advance
2023 ACR/EULAR classification criteria for Still's disease published
significantMechanism
Gasdermin D and pyroptosis established as central to AOSD cytokine storm
incrementalnew treatment
JAK inhibitors show early promise in refractory AOSD
ID: adult-onset-stills-disease-update-6Type: diagnostic_advanceImpact: incremental