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.

0
/ / 推荐

导出引用管理器 EndNote|Reference Manager|ProCite|BibTeX|RefWorks

链接本文: http://journal11.magtechjournal.com/Jwk_jcyxylc/CN/10.16352/j.issn.1001-6325.2022.12.1945

http://journal11.magtechjournal.com/Jwk_jcyxylc/CN/Y2022/V42/I12/1945

参考文献

[1]Tromp G, Kuivaniemi H, Raphael S, et al. Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16[J]. Am J Hum Genet, 1996, 59: 1097-1107. PMID: 8900239.
[2]Inohara, Chamaillard, McDonald C, et al. NOD-LRR proteins: role in host-microbial interactions and inflammatory disease[J]. Annu Rev Biochem, 2005, 74: 355-383. doi: 10.1146/annurev.biochem.74.082803.133347.
[3]李彩凤,张俊梅,李士朋,等.中国儿童Blau综合征患者基因突变及临床表型研究[J]. 中国科学:生命科学, 2018, 48: 962-966.
[4]Napier RJ, Lee EJ, Davey MP, et al. T cell-intrinsic role for Nod2 in protection against Th17-mediated uveitis[J]. Nat Commun, 2020, 26: 5406. doi: 10.1038/s41467-020-18961-0.
[5]Nishiyama M, Li HJ, Okafuji I, et al. Sustained surface ICAM-1 expression and transient PDGF-B production by phorbol myristate acetate-activated THP-1 cells harboring Blau syndrome-associated NOD2 mutations[J]. Children, 2021, 8: 335. doi: 10.3390/children8050335.
[6]Arakawa A, Kambe N, Nishikomori R, et al. NOD2 Mutation-associated case with Blau syndrome triggered by BCG vaccination[J]. Children, 2021, 8: 117. doi: 10.3390/children8020117.
[7]Kitagawa Y, Kawasaki Y, Yamasaki Y, et al. Anti-TNF treatment corrects IFN-γ-dependent proinflammatory signatures in Blau syndrome patient-derived macrophages[J]. J Allergy Clin Immunol, 2022, 149: 176-188. doi: 10.1016/j.jaci.2021.05.030.
[8]Saito MK. Elucidation of the pathogenesis of autoinflammatory diseases using iPS cells[J]. Children, 2021, 8: 94. doi: 10.3390/children8020094.
[9]Thirumal Kumar D, Udhaya Kumar S, Nishaat Laeeque AS, et al. Computational model to analyze and charac-terize the functional mutations of NOD2 protein causing inflammatory disorder-Blau syndrome[J]. Adv Protein Chem Struct Biol, 2020, 120: 379-408. doi: 10.1016/bs.apcsb.2019.11.005.
[10]Wang W, Wang W, Zhong LQ, et al. Thalidomide may be an effective drug for Blau syndrome: a case report[J]. Ann Palliat Med, 2022, 11: 2538-2543. doi: 10.21037/apm-21-2216.
[11]Zhang S, Cai Z, Mo X, et al. Tofacitinib effectiveness in Blau syndrome: a case series of Chinese paediatric patients[J]. Pediatr Rheumatol Online, 2021, 19: 160. doi: 10.1186/s12969-021-00634-x.
[12]Matsuda T, Kambe N, Takimoto-Ito R, et al. Potential benefits of TNF targeting therapy in Blau syndrome, a NOD2-associated systemic autoinflammatory granulomatosis[J]. Front Immunol, 2022, 13: 895765. doi: 10.3389/fimmu.2022.895765.

Blau综合征的研究进展

Advances in research of Blau syndrome

PDF

可视化

摘要/Abstract

引用本文

使用本文

参考文献

相关文章 12

编辑推荐

Metrics

本文评价

[1]	卢珊, 张冰清, 叶菜英, 朱蕾. GSDMD-N和p-MLKL蛋白在类风湿关节炎滑膜组织中上调[J]. 基础医学与临床, 2022, 42(4): 560-564.
[2]	李蓉, 朱含月. 酮咯酸氨丁三醇抑制膝骨关节炎模型大鼠炎性反应[J]. 基础医学与临床, 2022, 42(3): 417-422.
[3]	刘新兵, 张美红. 钩吻碱通过下调circ_001680抑制类风湿关节炎滑膜成纤维细胞增殖和侵袭[J]. 基础医学与临床, 2022, 42(3): 429-435.
[4]	宋昊昕, 叶菜英, 朱蕾. Blau综合征细胞模型的建立[J]. 基础医学与临床, 2022, 42(3): 406-410.
[5]	胡楠, 张竞, 王静, 王沛, 王婧, 李自成, 吴田明, 王亚红, 王强, 何岚. 联合检测软骨代谢生物标志物在膝骨关节炎早期诊断中的应用[J]. 基础医学与临床, 2022, 42(12): 1906-1910.
[6]	刘帆, 苏思, 王涛, 袁勃, 马超. 敲除背根神经节Fcgr1减弱类风湿关节炎模型大鼠NF-κB/NLRP3通路活化[J]. 基础医学与临床, 2021, 41(7): 963-969.
[7]	程晓刚, 金虹, 陈玮, 罗丹, 单娟, 徐艳. 西南地区类风湿性关节炎患者Fas单核苷酸多态性与血清sFas水平相关[J]. 基础医学与临床, 2021, 41(11): 1583-1587.
[8]	及松洁, 黄野, 唐竞, 杜辉, 邵宏翊, 姜旭, 周一新. 第一跖趾关节融合联合第二至五跖趾关节成形治疗类风湿前足畸形的疗效观察[J]. 基础医学与临床, 2021, 41(10): 1486-1490.
[9]	王昕, 董庆喆, 张娟, 李冬, 艾迪, 王云龙. 高密度脂蛋白改善胶原诱导性关节炎模型小鼠的症状[J]. 基础医学与临床, 2020, 40(7): 960-964.
[10]	牛舜, 马保安, 龙华, 王丹, 陈慧芸, 张艳, 周勇. 3D打印膝关节模型在八年制医学生骨关节炎教学中的作用[J]. 基础医学与临床, 2020, 40(3): 407-410.
[11]	郭雄飞, 王挺, 汤立新. miR-29a对类风湿关节炎成纤维样滑膜细胞增殖和凋亡的影响[J]. 基础医学与临床, 2020, 40(1): 9-15.
[12]	郭惠芳刘淑霞张玉军左连富郭建文张欣. 三氧化二砷抑制TNFα诱导大鼠滑膜细胞株增殖及机制[J]. 基础医学与临床, 2008, 28(4): 364-369.