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References

1. Arima K, Kinoshita A, Mishima H, Kanazawa N, Kaneko T, Mizushima T, IchinoseK, Nakamura H, Tsujino A, Kawakami A, Matsunaka M, Kasagi S, Kawano S, Kumagai S,Ohmura K, Mimori T, Hirano M, Ueno S, Tanaka K, Tanaka M, Toyoshima I, Sugino H, Yamakawa A, Tanaka K, Niikawa N, Furukawa F, Murata S, Eguchi K, Ida H, Yoshiura K. Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8)mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome. ProcNatl Acad Sci U S A. 2011 Sep 6;108(36):14914-9. doi: 10.1073/pnas.1106015108.
2. Kanazawa N. Nakajo-Nishimura syndrome: an autoinflammatory disorder showingpernio-like rashes and progressive partial lipodystrophy. Allergol Int. 2012Jun;61(2):197-206. doi: 10.2332/allergolint.11-RAI-0416.Review.
3. Kitamura A, Maekawa Y, Uehara H, Izumi K, Kawachi I, Nishizawa M, Toyoshima Y,Takahashi H, Standley DM, Tanaka K, Hamazaki J, Murata S, Obara K, Toyoshima I,Yasutomo K. A mutation in the immunoproteasome subunit PSMB8 causesautoinflammation and lipodystrophy in humans. J Clin Invest. 2011Oct;121(10):4150-60. doi: 10.1172/JCI58414.
4. Kitano Y, Matsunaga E, Morimoto T, Okada N, Sano S. A syndrome with nodularerythema, elongated and thickened fingers, and emaciation. Arch Dermatol. 1985Aug;121(8):1053-6.
5. Kunimoto K, Kimura A, Uede K, Okuda M, Aoyagi N, Furukawa F, Kanazawa N. A newinfant case of Nakajo-Nishimura syndrome with a genetic mutation in theimmunoproteasome subunit: an overlapping entity with JMP and CANDLE syndromerelated to PSMB8 mutations. Dermatology. 2013;227(1):26-30. doi:10.1159/000351323.
6. Tanaka M, Miyatani N, Yamada S, Miyashita K, Toyoshima I, Sakuma K, Tanaka K, Yuasa T, Miyatake T, Tsubaki T. Hereditary lipo-muscular atrophy with jointcontracture, skin eruptions and hyper-gamma-globulinemia: a new syndrome. Intern Med. 1993 Jan;32(1):42-5. Review.