Background: Palindromic rheumatism (PR) is a characteristic periodic arthritis characterized by relapsing short episodes of arthritis. Its clinical characteristic is similar to that of autoinflammatory disease, although the pathogenesis of PR remains unclear.

Objectives: To investigate whether the autoinflammatory gene mutations are implicated in the pathogenesis of PR and to examine its clinical presentation and its evolution in a large Chinese cohort of PR patients.

Methods: In this study, we performed whole-exome sequencing (WES) on a cohort of 323 PR patients to identify potential genetic variations, followed by Sanger sequencing for validation. RNA sequencing (RNA-seq) was conducted to explore gene expression profiles.

Results: In this study, 27 of 323 patients with PR (8.18%) were carriers of at least one pathogenic or likely pathogenic variant implicating genes related to inflammation. 11.1% of RNA-seq confirmed an elevation of IL-1 production, TNF signaling, and NF-κb signaling in these patients. Association analyses comparing the PR cohort with a control cohort identified 19 further PR-associated genes with a significantly higher burden of VUS variants, including TRPM2 , TRPV2 , ITPR3 , PLCB4 , and MCU , which are involved in calcium signaling.

Conclusion: Our study shows a previously unreported high prevalence of autoinflammatory gene mutations as well as new candidate genes in PR.

REFERENCES: NIL.

Acknowledgements: NIL.

Disclosure of Interests: None declared.

© The Authors 2025. This abstract is an open access article published in Annals of Rheumatic Diseases under the CC BY-NC-ND license ( http://creativecommons.org/licenses/by-nc-nd/4.0/ ). Neither EULAR nor the publisher make any representation as to the accuracy of the content. The authors are solely responsible for the content in their abstract including accuracy of the facts, statements, results, conclusion, citing resources etc.