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Page 1
[Nakajo-Nishimura syndrome].
Kanazawa N, Arima K, Ida H, Yoshiura K, Furukawa F. Kanazawa N, et al. Nihon Rinsho Meneki Gakkai Kaishi. 2011;34(5):388-400. doi: 10.2177/jsci.34.388. Nihon Rinsho Meneki Gakkai Kaishi. 2011. PMID: 22041427 Free article. Review. Japanese.
The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS.
Cetin Gedik K, Lamot L, Romano M, Demirkaya E, Piskin D, Torreggiani S, Adang LA, Armangue T, Barchus K, Cordova DR, Crow YJ, Dale RC, Durrant KL, Eleftheriou D, Fazzi EM, Gattorno M, Gavazzi F, Hanson EP, Lee-Kirsch MA, Montealegre Sanchez GA, Neven B, Orcesi S, Ozen S, Poli MC, Schumacher E, Tonduti D, Uss K, Aletaha D, Feldman BM, Vanderver A, Brogan PA, Goldbach-Mansky R. Cetin Gedik K, et al. Ann Rheum Dis. 2022 May;81(5):601-613. doi: 10.1136/annrheumdis-2021-221814. Epub 2022 Jan 27. Ann Rheum Dis. 2022. PMID: 35086813 Free PMC article.
[Type I interferonopathies].
Munoz J, Marque M, Dandurand M, Meunier L, Crow YJ, Bessis D. Munoz J, et al. Ann Dermatol Venereol. 2015 Nov;142(11):653-63. doi: 10.1016/j.annder.2015.06.018. Epub 2015 Sep 9. Ann Dermatol Venereol. 2015. PMID: 26363997 French.
The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: CANDLE/PRAAS, SAVI, and AGS.
Cetin Gedik K, Lamot L, Romano M, Demirkaya E, Piskin D, Torreggiani S, Adang LA, Armangue T, Barchus K, Cordova DR, Crow YJ, Dale RC, Durrant KL, Eleftheriou D, Fazzi EM, Gattorno M, Gavazzi F, Hanson EP, Lee-Kirsch MA, Montealegre Sanchez GA, Neven B, Orcesi S, Ozen S, Poli MC, Schumacher E, Tonduti D, Uss K, Aletaha D, Feldman BM, Vanderver A, Brogan PA, Goldbach-Mansky R. Cetin Gedik K, et al. Arthritis Rheumatol. 2022 May;74(5):735-751. doi: 10.1002/art.42087. Epub 2022 Mar 21. Arthritis Rheumatol. 2022. PMID: 35315249
[Uncommon lipodystrophic syndromes].
Guillín-Amarelle C, Sánchez-Iglesias S, Araújo-Vilar D. Guillín-Amarelle C, et al. Med Clin (Barc). 2015 Jan 20;144(2):80-7. doi: 10.1016/j.medcli.2014.02.024. Epub 2014 Apr 29. Med Clin (Barc). 2015. PMID: 24787681 Review. Spanish. No abstract available.
Nakajo-Nishimura syndrome and related proteasome-associated autoinflammatory syndromes.
Ohmura K. Ohmura K. J Inflamm Res. 2019 Sep 17;12:259-265. doi: 10.2147/JIR.S194098. eCollection 2019. J Inflamm Res. 2019. PMID: 31576159 Free PMC article.
NNS was considered to be endemic to the Kansai area of Japan, but patients with similar phenotypes and the mutation of PSMB8 gene were reported in other countries, and named Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome and …
NNS was considered to be endemic to the Kansai area of Japan, but patients with similar phenotypes and the mutation of PSMB8 gene were repor …
Proteasome-associated autoinflammatory syndromes: advances in pathogeneses, clinical presentations, diagnosis, and management.
McDermott A, Jacks J, Kessler M, Emanuel PD, Gao L. McDermott A, et al. Int J Dermatol. 2015 Feb;54(2):121-9. doi: 10.1111/ijd.12695. Epub 2014 Dec 18. Int J Dermatol. 2015. PMID: 25521013 Review.
Since then, several syndromes, such as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome, Nakajo-Nishimura syndrome (NNS), joint contractures, muscle atrophy, microcytic anemia and panniculitis-induced lipodystrop …
Since then, several syndromes, such as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) synd …
The homozygous founder Psmb8 variant of Nakajo-Nishimura syndrome/proteasome-associated autoinflammatory syndrome causes panniculitis-associated lipoatrophy and a shortened lifespan in mice.
Hara T, Kinoshita A, Hamazaki J, Hemmi H, Kato T, Sasaki I, Inaba Y, Yamashita Y, Okuzaki D, Yoshiura KI, Murata S, Jinnin M, Kaisho T, Kanazawa N. Hara T, et al. Sci Rep. 2026 May 28;16(1):15039. doi: 10.1038/s41598-026-51190-x. Sci Rep. 2026. PMID: 42209561 Free PMC article.
36 results