Nakajo–Nishimura syndrome and related proteasome-associated autoinflammatory syndromes

Nakajo–Nishimura syndrome and related proteasome-associated autoinflammatory syndromes

Koichiro Ohmura Department of Rheumatology and Clinical Immunology, Kyoto University Graduate School of Medicine, Kyoto 606-8507, JapanCorrespondence: Koichiro OhmuraDepartment of Rheumatology and Clinical Immunology, Kyoto University Graduate School of Medicine, 54 Kawahara-cho, Shogoin, Sakyo-ku,...

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Autor principal: Ohmura K
Formato: article
Lenguaje:EN
Publicado: Dove Medical Press 2019
Materias:
Nakajo-Nishimura syndrome
PSMB8
autoinflammatory syndrome
proteasome
lipodystrophy
interferonopathy
Pathology
RB1-214
Therapeutics. Pharmacology
RM1-950
Acceso en línea:https://doaj.org/article/682483f0780b4f649139417e9c0f95e2
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spelling oai:doaj.org-article:682483f0780b4f649139417e9c0f95e22021-12-02T09:56:25ZNakajo–Nishimura syndrome and related proteasome-associated autoinflammatory syndromes1178-7031https://doaj.org/article/682483f0780b4f649139417e9c0f95e22019-09-01T00:00:00Zhttps://www.dovepress.com/nakajo-nishimura-syndrome-and-related-proteasome-associated-autoinflam-peer-reviewed-article-JIRhttps://doaj.org/toc/1178-7031Koichiro Ohmura Department of Rheumatology and Clinical Immunology, Kyoto University Graduate School of Medicine, Kyoto 606-8507, JapanCorrespondence: Koichiro OhmuraDepartment of Rheumatology and Clinical Immunology, Kyoto University Graduate School of Medicine, 54 Kawahara-cho, Shogoin, Sakyo-ku, Kyoto 606-8507, JapanTel +81 75 751 4380Fax +81 75 751 4338Email ohmurako@kuhp.kyoto-u.ac.jpAbstract: Nakajo–Nishimura syndrome (NNS) is a rare hereditary autoinflammatory disorder with lipodystrophy. This disease is caused by a homozygous mutation of PSMB8 gene, which encodes immunoproteasome subunit β5i. Phenotypes of NNS patients are periodic fever, pernio-like rash, nodular erythema-like eruptions, and lipomuscular dystrophy, especially in the upper body, leading to the characteristic long, clubbed fingers. 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 joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy (JMP) syndrome. These syndromes are now called proteasome-associated autoinflammatory syndromes (PRAASs), and their main pathophysiological mechanism seems to be interferonopathy. In this review, the history, characteristics, and the pathophysiological mechanism of PRAASs will be discussed, focusing mainly on NNS.Keywords: Nakajo-Nishimura syndrome, PSMB8, autoinflammatory syndrome, proteasome, lipodystrophy, interferonopathyOhmura KDove Medical PressarticleNakajo-Nishimura syndromePSMB8autoinflammatory syndromeproteasomelipodystrophyinterferonopathyPathologyRB1-214Therapeutics. PharmacologyRM1-950ENJournal of Inflammation Research, Vol Volume 12, Pp 259-265 (2019)
institution DOAJ
collection DOAJ
language EN
topic Nakajo-Nishimura syndrome
PSMB8
autoinflammatory syndrome
proteasome
lipodystrophy
interferonopathy
Pathology
RB1-214
Therapeutics. Pharmacology
RM1-950
spellingShingle Nakajo-Nishimura syndrome
PSMB8
autoinflammatory syndrome
proteasome
lipodystrophy
interferonopathy
Pathology
RB1-214
Therapeutics. Pharmacology
RM1-950
Ohmura K
Nakajo–Nishimura syndrome and related proteasome-associated autoinflammatory syndromes
description Koichiro Ohmura Department of Rheumatology and Clinical Immunology, Kyoto University Graduate School of Medicine, Kyoto 606-8507, JapanCorrespondence: Koichiro OhmuraDepartment of Rheumatology and Clinical Immunology, Kyoto University Graduate School of Medicine, 54 Kawahara-cho, Shogoin, Sakyo-ku, Kyoto 606-8507, JapanTel +81 75 751 4380Fax +81 75 751 4338Email ohmurako@kuhp.kyoto-u.ac.jpAbstract: Nakajo–Nishimura syndrome (NNS) is a rare hereditary autoinflammatory disorder with lipodystrophy. This disease is caused by a homozygous mutation of PSMB8 gene, which encodes immunoproteasome subunit β5i. Phenotypes of NNS patients are periodic fever, pernio-like rash, nodular erythema-like eruptions, and lipomuscular dystrophy, especially in the upper body, leading to the characteristic long, clubbed fingers. 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 joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy (JMP) syndrome. These syndromes are now called proteasome-associated autoinflammatory syndromes (PRAASs), and their main pathophysiological mechanism seems to be interferonopathy. In this review, the history, characteristics, and the pathophysiological mechanism of PRAASs will be discussed, focusing mainly on NNS.Keywords: Nakajo-Nishimura syndrome, PSMB8, autoinflammatory syndrome, proteasome, lipodystrophy, interferonopathy
format article
author Ohmura K
author_facet Ohmura K
author_sort Ohmura K
title Nakajo–Nishimura syndrome and related proteasome-associated autoinflammatory syndromes
title_short Nakajo–Nishimura syndrome and related proteasome-associated autoinflammatory syndromes
title_full Nakajo–Nishimura syndrome and related proteasome-associated autoinflammatory syndromes
title_fullStr Nakajo–Nishimura syndrome and related proteasome-associated autoinflammatory syndromes
title_full_unstemmed Nakajo–Nishimura syndrome and related proteasome-associated autoinflammatory syndromes
title_sort nakajo–nishimura syndrome and related proteasome-associated autoinflammatory syndromes
publisher Dove Medical Press
publishDate 2019
url https://doaj.org/article/682483f0780b4f649139417e9c0f95e2
work_keys_str_mv AT ohmurak nakajondashnishimurasyndromeandrelatedproteasomeassociatedautoinflammatorysyndromes
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