Blau综合征的研究进展

doi:10.16352/j.issn.1001-6325.2022.12.1945

基础医学与临床 ›› 2022, Vol. 42 ›› Issue (12): 1945-1949.doi: 10.16352/j.issn.1001-6325.2022.12.1945

Blau综合征的研究进展

寇玉辉¹, 叶菜英², 邢成锋^1*

1.广州银珠生物医药技术有限公司,广东广州 510700;
2.中国医学科学院基础医学研究所药理系,北京 100005

收稿日期:2022-09-02 修回日期:2022-10-21 出版日期:2022-12-05 发布日期:2022-11-23
通讯作者: ^* chengfeng.xing@yinzhupharma.com
基金资助:
广东省科技专项(2019FSDZX01010301)

Advances in research of Blau syndrome

KOU Yu-hui¹, YE Cai-ying², XING Cheng-feng^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

摘要/Abstract

摘要： 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。

关键词: Blau综合征, 肉芽肿性皮炎, 关节炎, 葡萄膜炎, NOD2

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

中图分类号:

R394

寇玉辉, 叶菜英, 邢成锋. Blau综合征的研究进展[J]. 基础医学与临床, 2022, 42(12): 1945-1949.

KOU Yu-hui, YE Cai-ying, XING Cheng-feng. Advances in research of Blau syndrome[J]. Basic & Clinical Medicine, 2022, 42(12): 1945-1949.

参考文献

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Blau综合征的研究进展

Advances in research of Blau syndrome

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