Advances in research of Blau syndrome

Abstract

Blau syndrome is a rare auto-inflammatory disease caused by NOD2 mutation and a persistent hyper-inflammatory reaction mediated by transcription factor (NF-κB). The disease is characterized by an early onset of age and non-casein-like granulomatous inflammatory responses. The typical clinical manifestations are granulomatous dermatitis, symmetric arthritis, and uveitis. At present, the treatment of Blau syndrome is mainly based on glucocorticoid and immuno-suppressants, but the therapeutic effect is still not satisfactory.

Keywords

• blau syndrome|granulomatous dermatitis|arthritis|uveitis|nod2