Retrospective study uncovers genetic variants in FMF-like conditions, suggesting improved diagnostic strategies.
NGS significantly increases the diagnostic yield in FMF-like presentations by detecting rare MEFV variants and identifying broader genetic heterogeneity. The transition from targeted screening to comprehensive NGS panels provides a deeper understanding of autoinflammatory phenotypes and supports individualized diagnostic and therapeutic strategies in clinical practice.
No takes yet. Share an insight, caveat, or question.
Karaer et al. (2026) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: