Somatic mutations in rheumatological diseases: VEXAS syndrome and beyond.

Abstract excerpt

Discovery of the VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome demonstrates that somatic mutations in haematological precursor cells can cause adult-onset, complex inflammatory disease. Unlike germline mutations, somatic mutations occur throughout the lifespan, are restricted to specific tissue types, and may play a causal role in non-heritable rheumatological diseases, especially...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Germ-Line Mutation
• Share to Histiocytic Disorders and Treatments