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Autoinflammatory disease, Nakajo-Nishimura syndrome and further perspective
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Furukawa, F. (2022). Autoinflammatory disease, Nakajo-Nishimura syndrome and further perspective. Trends in Immunotherapy, 6(2). https://doi.org/10.24294/ti.v6.i2.1710
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Keywords:
Autoinflammatory Disease Nakajo-Nishimura Syndrome Proteasome Subunit β-Type 8 (PSMB8) Proteasome-associated Autoinflammatory Syndrome (PRAAS); InterferonopathyReferences
- Inaba Y, Kunimoto K, Kanazawa N, Furukawa F. Antinuclear antibodies in Nakajo-Nishimura syndrome. A bridge with research on refractory autoimmune diseases. Trends in Immunotherapy 2018; 2: 1078. doi: 10.24294/ti.v2.i3.1078
- Inaba Y, Kunimoto K, Kanazawa N, Furukawa F. Effects of a humanized anti-human IL-6 receptor monoclonal antibody on Nakajo-Nishimura syndrome. Trends in Immunotherapy 2018; 2: 1051. doi: 10.24294/ti.v2.i3.1051
- Kondo N, Tanifuji O, Mochizuki T, et al. SAPHO syndrome in which certolizumab pegol was effective: A case report. Trends in Immunotherapy 2017; 1: 93–98. doi: 10.24294/ti.v1.i2.51
- Urano S, Abe J, Kikuchi H. Peristomal pyoderma gangrenosum successfully treated with cyclosporine. Trends in Immunotherapy 2022; 6(2): 4–8. doi: 10.24294/ti.v6.i2.1474
- Hashizume H, Kageyama R, Umayahara T, Morio T. A case of pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome successfully treated with combination therapy of corticosteroids, cyclosporine, and colchicine. Trends in Immunotherapy 2018; 2: 719. doi: 10.24294/ti.v2.i2.719
- Kurokawa S, Tokura Y, Nguyen XN, et al. Acne fulminans coexisting with pyoderma gangrenosum-like eruptions and posterior scleritis. Journal of Dermatology 1996; 23(1): 37–41. doi: 10.1111/j.1346-8138.1996.tb03965.x
- Hu Y, Lin L, Cui P, et al. Clinical experience of combination therapy of infliximab and total glucosides of paeony for severe psoriasis with liver disorder history. Trends in Immunotherapy 2019; 3(2): 62–68. doi: 10.24294/ti.v3.i2.42
- Kanazawa N, Furukawa F. Autoinflammatory syndromes with a dermatological perspective. Journal of Dermatology 2007; 34(9): 601–618. doi: 10.1111/j.1346-8138.2007.00342.x
- Liu Y. Ramot Y, Torrelo A, et al. Mutations in proteasome subunit beta type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity. Arthritis Rheum 2012; 64(3): 895–907. doi: 10.1002/art.33368
- Kitamura A, Maekawa Y, Ueharae H, et al. A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans. Journal of Clinical Investigation 2011; 121(10): 4150–4160. doi: 10.1172/JCI58414
- Arima K, Kinoshita A, Mishima H, et al. Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome. Proceedings of the National Academy of Sciences 2011; 108(36): 14914–14919. doi: 10.1073/pnas.1106015108
- Agarwal AK, Xing C, DeMartino GN, et al. PSMB8 encoding the beta5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome. American Journal of Human Genetics 2010; 87(6): 866–872. doi: 10.1016/j.ajhg.2010.10.031
- Kanazawa N. Nakajo-Nishimura syndrome: An autoinflammatory disorder showing pernio-like rashes and progressive partial lipodystrophy. Allergology International 2012; 61(2): 197–206. doi: 10.2332/allergolint.11-RAI-0416
- Kanazawa N, Kunimoto K, Ishii N, et al. Is CANDLE the best nomenclature? British Journal of Dermatology 2014; 171(3): 659–660. doi: 10.1111/bjd.12962
- Sarrabay G, Méchin D, Salhi A, et al. PSMB10, the last immunoproteasome gene missing for PRAAS. Journal of Allergy and Clinical Immunology 2020; 145(3): 1015–1017. doi: 10.1016/j.jaci.2019.11.024
- Poli MC, Ebstein F, Nicholaset SK, et al. Heterozygous truncating variants in POMP escape nonsense-mediated decay and cause a unique immune dysregulatory syndrome. American Journal of Human Genetics 2018; 102(6): 1126–1142.
- doi: 10.1016/j.ajhg.2018.04.010
- de Jesus AA, Brehm A, VanTries R, et al. Novel proteasome assembly chaperone mutations in PSMG2/PAC2 cause the autoinflammatory interferonopathy CANDLE/PRAAS4. Journal of Allergy and Clinical Immunology 2019; 143(5): 1939–1943. doi: 10.1016/j.jaci.2018.12.1012
- Brehm A, Liu Y, Sheikh A, et al. Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production. Journal of Clinical Investigation 2015; 125(11): 4196–4211. doi: 10.1172/JCI81260
- Kanazawa N, Hemmi H, Kinjo N, et al. Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency. Nature Communications 2021; 12: 6819. doi: 10.1038/s41467-021-27085-y
- Miyamoto T, Honda Y, Izawa K, et al. Assessment of type I interferon signatures in undifferentiated inflammatory diseases: A Japanese multicenter experience. Frontiers in Immunology 2022; 13: 905960. doi: 10.3389/fimmu.2022.905960