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Title: 中條―西村症候群
Other Titles: Nakajo-Nishimura Syndrome
Authors: 金澤, 伸雄 / 有馬, 和彦 / 井田, 弘明 / 吉浦, 孝一郎 / 古川, 福実
Authors (alternative): Kanazawa, Nobuo / Arima, Kazuhiko / Ida, Hiroaki / Yoshiura, Koh-ichiro / Furukawa, Fukumi
Issue Date: 31-Oct-2011
Publisher: 日本臨床免疫学会 / The Japan Society for Clinical Immunology
Citation: 日本臨床免疫学会会誌, 34(5), pp.388-400; 2011
Abstract: 中條—西村症候群(ORPHA 2615, MIM 256040)は,幼小児期に凍瘡様皮疹で発症し,弛張熱や結節性紅斑様皮疹を伴いながら,次第に顔面・上肢を中心とした上半身のやせと拘縮を伴う長く節くれだった指趾が明らかになる特異な遺伝性炎症・消耗性疾患である.和歌山,大阪を中心とした関西と東北,関東地方に偏在し,30例近い報告がある.全国疫学調査で生存が確認された関西の10症例に加え,新規幼児例が和歌山で見出され,今後も増える可能性がある.長らく原因不明であったが,ホモ接合マッピングにより,免疫プロテアソームβ5iサブユニットをコードするPSMB8遺伝子のホモ変異が同定された.患者由来細胞,組織の検討により,本疾患ではプロテアソーム機能不全のためにユビキチン化,酸化蛋白質が蓄積することによって,p38 MAPK経路が過剰に活性化しIL-6が過剰に産生されることが示唆された.最近,欧米からもPSMB8遺伝子変異を伴う類症が報告され,遺伝性自己炎症疾患の新たなカテゴリーであるプロテアソーム不全症が世界に分布することが明らかになりつつある. / Nakajo-Nishimura syndrome (NNS) (MIM256040, ORPHA2615) is a distinct inherited inflammatory and wasting disease, which usually begins in early infancy with a pernio-like rash. The patients develop periodic high fever and nodular erythema-like eruptions, and gradually progress lipomuscular atrophy in the upper body, mainly the face and the upper extremities, to show the characteristic long clubbed fingers with joint contractures. So far about 30 cases have been reported from Kansai, especially Wakayama and Osaka, Tohoku and Kanto areas. In addition to 10 cases in Kansai area, which have been confirmed to be alive by national surveillance, an infant case has newly been discovered in Wakayama and more cases will be added. Although cause of the disease has long been undefined, a homozygous mutation of the PSMB8 gene, which encodes the β5i subunit of immunoproteasome, has been identified by homozygosity mapping. By analyses of the patients-derived cells and tissues, it has been suggested that accumulation of ubiquitinated and oxidated proteins due to deficiency of proteasome activities cause hyperactivation of p38 MAPK and overproduction of IL-6. Similar diseases with PSMB8 mutations have recently been reported from Europe and the U.S.A., and therefore, it is becoming clear that proteasome deficiency syndromes are globally distributed as a new category of the autoinflammatory diseases.
Keywords: Nakajo-Nishimura syndrome / lipomuscular atrophy / PSMB8 / immunoproteasome / ubiquitin
URI: http://hdl.handle.net/10069/26256
ISSN: 09114300 / 13497413
DOI: 10.2177/jsci.34.388
Rights: Copyright (c) 2011 The Japan Society for Clinical Immunology
Type: Journal Article
Text Version: publisher
Appears in Collections:Articles in academic journal

Citable URI : http://hdl.handle.net/10069/26256

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