#5-58E. Unmasking the Mosaic: Acquired Mutations Driving Late-Onset Autoinflammatory Diseases (Arthritis Rheumatol, 2026)

How should we evaluate adult patients presenting with unexplained, recurrent systemic inflammation? A landmark cohort study reveals that somatic mosaicism drives over twenty percent of diagnosed autoinflammatory diseases, with variant allele frequencies as low as three percent capable of triggering severe complications like AA amyloidosis. Although this study is limited by its targeted gene panel which cannot identify novel genetic drivers, the clinical message is clear. Incorporating high-depth genomic sequencing into adult diagnostic workflows is essential to prevent irreversible organ damage and enable targeted, life-saving therapies.

Citation: Rowczenio D, et al. Redefining the Landscape: Acquired Mutations Driving Systemic Autoinflammatory Diseases. Arthritis & Rheumatology. 2026. DOI: 10.1002/art.70282

URL: https://doi.org/10.1002/art.70282

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