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Page 1
Panniculitis: A Cardinal Sign of Autoinflammation.
Borges T, Silva S. Borges T, et al. Curr Rheumatol Rev. 2024;20(4):350-360. doi: 10.2174/0115733971254702231020060633. Curr Rheumatol Rev. 2024. PMID: 37921131 Review.
Panniculitis is a distinctive feature in proteasome-associated autoinflammatory syndromes (PRAAS), including chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome and Nakajo-Nishimura syndrome. On the ot …
Panniculitis is a distinctive feature in proteasome-associated autoinflammatory syndromes (PRAAS), including chronic atypical neutrophilic d …
Nakajo-Nishimura syndrome: an autoinflammatory disorder showing pernio-like rashes and progressive partial lipodystrophy.
Kanazawa N. Kanazawa N. Allergol Int. 2012 Jun;61(2):197-206. doi: 10.2332/allergolint.11-RAI-0416. Epub 2012 Mar 25. Allergol Int. 2012. PMID: 22441638 Free article. Review.
Nakajo-Nishimura syndrome (ORPHA2615; also registered as Nakajo syndrome in OMIM#256040) is a distinct inherited inflammatory and wasting disease, originally reported from Japan. ...By analyses of the patients-derived cells and tissues, it has b …
Nakajo-Nishimura syndrome (ORPHA2615; also registered as Nakajo syndrome in OMIM#256040) is a distinct in …
Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS).
Papendorf JJ, Ebstein F, Alehashemi S, Piotto DGP, Kozlova A, Terreri MT, Shcherbina A, Rastegar A, Rodrigues M, Pereira R, Park S, Lin B, Uss K, Möller S, da Silva Pina AF, Sztajnbok F, Torreggiani S, Niemela J, Stoddard J, Rosenzweig SD, Oler AJ, McNinch C, de Guzman MM, Fonseca A, Micheloni N, Fraga MM, Perazzio SF, Goldbach-Mansky R, de Jesus AA, Krüger E. Papendorf JJ, et al. Front Immunol. 2023 Aug 4;14:1190104. doi: 10.3389/fimmu.2023.1190104. eCollection 2023. Front Immunol. 2023. PMID: 37600812 Free PMC article.
Mutations in genes coding for proteasome subunits and/or proteasome assembly helpers typically cause recurring autoinflammation referred to as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperatures (CANDLE) or proteasome-associated autoinflam …
Mutations in genes coding for proteasome subunits and/or proteasome assembly helpers typically cause recurring autoinflammation referred to …
Pluripotent Stem Cell Model of Nakajo-Nishimura Syndrome Untangles Proinflammatory Pathways Mediated by Oxidative Stress.
Honda-Ozaki F, Terashima M, Niwa A, Saiki N, Kawasaki Y, Ito H, Hotta A, Nagahashi A, Igura K, Asaka I, Li HL, Yanagimachi M, Furukawa F, Kanazawa N, Nakahata T, Saito MK. Honda-Ozaki F, et al. Stem Cell Reports. 2018 Jun 5;10(6):1835-1850. doi: 10.1016/j.stemcr.2018.04.004. Epub 2018 May 3. Stem Cell Reports. 2018. PMID: 29731430 Free PMC article.
Nakajo-Nishimura syndrome (NNS) is an immunoproteasome-associated autoinflammatory disorder caused by a mutation of the PSMB8 gene. ...To investigate and understand the mechanisms and signal pathways in NNS, we established a panel of isogenic pluripote …
Nakajo-Nishimura syndrome (NNS) is an immunoproteasome-associated autoinflammatory disorder caused by a mutation of the …
How to diagnose a lipodystrophy syndrome.
Vantyghem MC, Balavoine AS, Douillard C, Defrance F, Dieudonne L, Mouton F, Lemaire C, Bertrand-Escouflaire N, Bourdelle-Hego MF, Devemy F, Evrard A, Gheerbrand D, Girardot C, Gumuche S, Hober C, Topolinski H, Lamblin B, Mycinski B, Ryndak A, Karrouz W, Duvivier E, Merlen E, Cortet C, Weill J, Lacroix D, Wémeau JL. Vantyghem MC, et al. Ann Endocrinol (Paris). 2012 Jun;73(3):170-89. doi: 10.1016/j.ando.2012.04.010. Epub 2012 Jun 28. Ann Endocrinol (Paris). 2012. PMID: 22748602 Review.
Some genetically determined forms have recently been found to be due to autoinflammatory syndromes linked to a proteasome anomaly (PSMB8). They result in a lipodystrophy syndrome that occurs secondarily with fever, dermatosis and panniculitis. ...In addition to the …
Some genetically determined forms have recently been found to be due to autoinflammatory syndromes linked to a proteasome anomaly (PSMB8 …
A Chinese case of Nakajo-Nishimura syndrome with novel compound heterozygous mutations of the PSMB8 gene.
Jia T, Zheng Y, Feng C, Yang T, Geng S. Jia T, et al. BMC Med Genet. 2020 Jun 8;21(1):126. doi: 10.1186/s12881-020-01060-8. BMC Med Genet. 2020. PMID: 32513120 Free PMC article.
BACKGROUND: Nakajo-Nishimura syndrome (NNS) is an autosomal recessive heredity disorder, one of a spectrum of autoinflammatory diseases named proteasome-associated autoinflammatory syndrome (PRAAS) caused by mutations of PSMB8 gene. ...CONCLUSIONS: We …
BACKGROUND: Nakajo-Nishimura syndrome (NNS) is an autosomal recessive heredity disorder, one of a spectrum of autoinfla …
Myositis with sarcoplasmic inclusions in Nakajo-Nishimura syndrome: a genetic inflammatory myopathy.
Ayaki T, Murata K, Kanazawa N, Uruha A, Ohmura K, Sugie K, Kasagi S, Li F, Mori M, Nakajima R, Sasai T, Nishino I, Ueno S, Urushitani M, Furukawa F, Ito H, Takahashi R. Ayaki T, et al. Neuropathol Appl Neurobiol. 2020 Oct;46(6):579-587. doi: 10.1111/nan.12614. Epub 2020 Mar 25. Neuropathol Appl Neurobiol. 2020. PMID: 32144790
AIMS: Nakajo-Nishimura syndrome (NNS) is an autosomal recessive disease caused by biallelic mutations in the PSMB8 gene that encodes the immunoproteasome subunit beta5i. ...METHODS: We studied clinical and pathological features of three NNS patients wh …
AIMS: Nakajo-Nishimura syndrome (NNS) is an autosomal recessive disease caused by biallelic mutations in the PSMB8 …
Designation of Autoinflammatory Skin Manifestations With Specific Genetic Backgrounds.
Kanazawa N. Kanazawa N. Front Immunol. 2020 Mar 18;11:475. doi: 10.3389/fimmu.2020.00475. eCollection 2020. Front Immunol. 2020. PMID: 32256502 Free PMC article. Review.
Similarly, a number of autoinflammatory skin diseases can be proposed; autoinflamatory urticarial dermatosis (AiUD) such as cryopyrin-associated periodic syndrome; autoinflammatory neutrophilic dermatosis (AiND) such as pyogenic sterile arthritis, pyoderma gangrenosm, and acne sy …
Similarly, a number of autoinflammatory skin diseases can be proposed; autoinflamatory urticarial dermatosis (AiUD) such as cryopyrin-associ …
32 results