Novel heterozygous C243Y A20/TNFAIP3 gene mutation is responsible for chronic inflammation in autosomal-dominant Behçet's disease

Abstract excerpt

OBJECTIVE: Although Behçet's disease (BD) is a chronic inflammatory disorder of uncertain aetiology, the existence of familial BD with autosomal-dominant traits suggests that a responsibility gene (or genes) exists. We investigated a Japanese family with a history of BD to search for pathogenic mutations underlying the biological mechanisms of BD. METHODS: 6 patients over 4 generations who had suffered from...

Topics

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

• Share to Cell death mechanisms and regulation
• Share to NF-κB Signaling Pathways
• Share to Ocular Diseases and Behçet’s Syndrome