Advances in research of Blau syndrome

doi:10.16352/j.issn.1001-6325.2022.12.1945

Abstract

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:

R394

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

References

[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.

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