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How (Ultra‐)Rare Gene Variants Improve Our Understanding of More Common Autoimmune and Inflammatory Diseases

1 Feb 2025

Abstract excerpt

The aim of this study was to explore the impact of rare and ultra-rare genetic variants on the understanding and treatment of autoimmune and autoinflammatory diseases with a focus on systemic lupus erythematosus (SLE) and Behçet syndrome. This review summarizes current research on the monogenic causes of SLE and Behçet syndrome, highlighting the various pathways that can be responsible for these unique...

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PMID: 39964335
DOI: 10.1002/acr2.70003

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