Advanced search
Publication Cover
Modern Rheumatology Volume 27, 2017 - Issue 2
Journal homepage
115
Views
2
CrossRef citations to date
0
Altmetric
Letter to the Editor

A Japanese familial Mediterranean fever patient with a rare G632S MEFV mutation in exon 10

Masataka UmedaDepartment of Rheumatology, Sasebo Chuo Hospital, Nagasaki, Japan, ;Department of Rheumatology, Unit of Translational Medicine, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan, Correspondence[email protected]
,
Kiyoshi MigitaClinical Research Center, National Hospital Organization, Nagasaki Medical Center, Nagasaki, Japan, and
,
Yukitaka UekiDepartment of Rheumatology, Sasebo Chuo Hospital, Nagasaki, Japan,
,
Fumiaki NonakaDepartment of Internal Medicine, Sasebo City General Hospital, Nagasaki, Japan
,
Toshiyuki AramakiDepartment of Rheumatology, Sasebo Chuo Hospital, Nagasaki, Japan,
,
Kaoru TeradaDepartment of Rheumatology, Sasebo Chuo Hospital, Nagasaki, Japan,
,
Tomohiro KogaDepartment of Rheumatology, Sasebo Chuo Hospital, Nagasaki, Japan,
,
Kunihiro IchinoseDepartment of Rheumatology, Sasebo Chuo Hospital, Nagasaki, Japan,
,
Katsumi EguchiDepartment of Rheumatology, Sasebo Chuo Hospital, Nagasaki, Japan,
&
Atsushi KawakamiDepartment of Rheumatology, Unit of Translational Medicine, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan,
show all
Pages 378-379 | Published online: 16 Jun 2016

References

  • Migita K, Uehara R, Nakamura Y, Yasunami M, Tsuchiya-Suzuki A, Yazaki M, et al. Familial Mediterranean fever in Japan. Medicine (Baltimore). 2012;91:337–43.
  • Yamaguchi M, Ohta A, Tsunematsu T, Kasukawa R, Mizushima Y, Kashiwagi H, et al. Preliminary criteria for classification of adult Still's disease. J Rheumatol. 1992;19:424–30.
  • Livneh A, Langevitz P, Zemer D, Zaks N, Kees S, Lidar T, et al. Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum. 1997;40:1879–85.
  • Samuels J, Aksentijevich I, Torosyan Y, Centola M, Deng Z, Sood R, et al. Familial Mediterranean fever at the millennium. Clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health. Medicine (Baltimore). 1998;77:268–97.
  • Touitou I. The spectrum of Familial Mediterranean Fever (FMF) mutations. Eur J Hum Genet. 2001;9:473–83.
  • Chae JJ, Wood G, Masters SL, Richard K, Park G, Smith BJ, et al. The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production. Proc Natl Acad Sci U S A. 2006;103:9982–7.
  • Shinar Y, Kuchuk I, Menasherow S, Kolet M, Lidar M, Langevitz P, et al. Unique spectrum of MEFV mutations in Iranian Jewish FMF patients—clinical and demographic significance. Rheumatology (Oxford). 2007;46:1718–22.
  • Migita K, Ida H, Moriuchi H, Agematsu K. Clinical relevance of MEFV gene mutations in Japanese patients with unexplained fever. J Rheumatol. 2012;39:875–7.
  • Sugiura T, Kawaguchi Y, Fujikawa S, Hirano Y, Igarashi T, Kawamoto M, et al. Familial Mediterranean fever in three Japanese patients, and a comparison of the frequency of MEFV gene mutations in Japanese and Mediterranean populations. Mod Rheumatol. 2008;18:57–9.
  • Ben-Chetrit E, Lerer I, Malamud E, Domingo C, Abeliovich D. The E148Q mutation in the MEFV gene: is it a disease-causing mutation or a sequence variant? Hum Mutat. 2000;15:385–6.
  • Tsuchiya-Suzuki A, Yazaki M, Nakamura A, Yamazaki K, Agematsu K, Matsuda M, et al. Clinical and genetic features of familial Mediterranean fever in Japan. J Rheumatol. 2009;36:1671–6.
  • Masters SL, Simon A, Aksentijevich I, Kastner DL. Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease. Annu Rev Immunol. 2009;27:621–68.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.