MISC

2014年11月

MEFV gene polymorphisms and TNFRSF1A mutation in patients with inflammatory myopathy with abundant macrophages

CLINICAL AND EXPERIMENTAL IMMUNOLOGY
  • K. Fujikawa
  • ,
  • K. Migita
  • ,
  • Y. Shigemitsu
  • ,
  • M. Umeda
  • ,
  • F. Nonaka
  • ,
  • M. Tamai
  • ,
  • H. Nakamura
  • ,
  • A. Mizokami
  • ,
  • T. Tsukada
  • ,
  • T. Origuchi
  • ,
  • N. Yonemitsu
  • ,
  • M. Yasunami
  • ,
  • A. Kawakami
  • ,
  • K. Eguchi

178
2
開始ページ
224
終了ページ
228
記述言語
英語
掲載種別
DOI
10.1111/cei.12407
出版者・発行元
WILEY-BLACKWELL

Inflammatory myopathy with abundant macrophages (IMAM) has recently been proposed as a new clinical condition. Although IMAM shares certain similarities with other inflammatory myopathies, the mechanisms responsible for this condition remain unknown. Patients with familial Mediterranean fever (FMF) and tumour necrosis factor receptor-associated periodic syndrome (TRAPS) also often develop myalgia. We therefore investigated the polymorphisms or mutations of MEFV and TNFRSF1A genes in patients with IMAM to identify their potential role in this condition. We analysed the clinical features of nine patients with IMAM and sequenced exons of the MEFV and TNFRSF1A genes. The patients with IMAM had clinical symptoms such as myalgia, muscle weakness, erythema, fever and arthralgia. Although none of the patients were diagnosed with FMF or TRAPS, seven demonstrated MEFV polymorphisms (G304R, R202R, E148Q, E148Q-L110P and P369S-R408Q), and one demonstrated a TNFRSF1A mutation (C43R). These results suggest that MEFV gene polymorphisms and TNFRSF1A mutation are susceptibility and modifier genes in IMAM.

Web of Science ® 被引用回数 : 5

リンク情報
DOI
https://doi.org/10.1111/cei.12407
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/24965843
Web of Science
https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:000342915800003&DestApp=WOS_CPL
URL
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84908170222&origin=inward
ID情報
  • DOI : 10.1111/cei.12407
  • ISSN : 0009-9104
  • eISSN : 1365-2249
  • PubMed ID : 24965843
  • SCOPUS ID : 84908170222
  • Web of Science ID : WOS:000342915800003

エクスポート
BibTeX RIS