Blau综合征的研究进展

Advances in research of Blau syndrome

Blau综合征是一种罕见的常染色体显性遗传性自身炎性反应疾病,系因NOD2的突变所致,由转录因子(NF-κB)介导的炎性反应持续过度而引起。疾病特点是发病年龄早,以非干酪样肉芽肿性炎性反应为主要特征,典型的临床表现为肉芽肿性皮炎、对称性关节炎和葡萄膜炎“三联征”。目前针对Blau综合征以糖皮质激素以及免疫抑制剂治疗为主,但治疗效果仍不理想。

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.