Basic & Clinical Medicine ›› 2022, Vol. 42 ›› Issue (12): 1945-1949.doi: 10.16352/j.issn.1001-6325.2022.12.1945

• Mini Reviews • Previous Articles     Next Articles

Advances in research of Blau syndrome

KOU Yu-hui1, YE Cai-ying2, XING Cheng-feng1*   

  1. 1. Guanzhou Yinzhu Biomedical Technology Co., Ltd, Guangzhou 510700;
    2. Department of Pharmacology, Institute of Basic Medical Sciences CAMS, Beijing 100005, China
  • Received:2022-09-02 Revised:2022-10-21 Online:2022-12-05 Published:2022-11-23
  • Contact: * chengfeng.xing@yinzhupharma.com

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.

Key words: Blau syndrome, granulomatous dermatitis, arthritis, uveitis, NOD2

CLC Number: