2007 Fiscal Year Final Research Report Summary
Abnormality of TNF receptor in autoimmune disease
| Project/Area Number |
18591117
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
膠原病・アレルギー・感染症内科学
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| Research Institution | Nagasaki University |
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Principal Investigator |
IDA Hiroaki Nagasaki University, Hospital of Medicine and Dentistry, First Department of Internal Medicine, Lecturer (60363496)
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| Co-Investigator(Kenkyū-buntansha) |
EGUCHI Katsumi Nagasaki University, Graduate School of Biomedical Sciences First Department of Internal Medicine, Professor (30128160)
KAWAKAMI Atsushi Nagasaki University, Hospital of Medicine and Dentistry, First Department of Internal Medicine, Lecturer (90325639)
ARAMAKI Toshiyuki Nagasaki University, Hospital of Medicine and Dentistry, First Department of Internal Medicine, Post-graduate student (80404284)
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| Project Period (FY) |
2006 – 2007
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| Keywords | TNF receptor / TRAPS / TNFRSF1A gene / Hereditary periodic fever syndrome / Epidemiological study |
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| Research Abstract |
One of the diseases that have an abnormal behavior in TNF receptor is TNF receptor-associated periodic syndrome (TRAPS), which is an autosomal dominant inherited disease characterized by prolonged episodes of periodic fever and localized inflammation. TRAPS patients are known to be rare in Asia. We previously reported a Japanese TRAPS patient associated with systemic lupus erythematosus (SLE)with a novel TNF receptor superfamily 1A gene (TNFRSF1A)mutation (T61I)[Rheumatology 43: 1292, 2004].
We examined patients with unknown fever derived from hospitals in Japan and we surveyed TRAPS patients with TNFRSF1 A mutation according to literature and the Japanese meetings. Sixty-six patients with unknown fever were consulted for us. We examined serum levels of cytokines(TNFα, sTNFRSF1A, sTNFRSF1B, and IL-6), TNFRSF1A mutations(exon 2, 3, 4), and clinical charts to make a diagnosis of TRAPS.
1)One patient was diagnosed with TRAPS (T61I mutation) and three patients were diagnosed with familial Mediterranean fever (FMF). 2) Until now 18 TRAPS patients from 7 pedigree including 5 different mutations (C30R, C30Y, T61I, C70S, C70G)had been reported in Japan. Chest pain and abdominal pain were rare clinical symptoms in the Japanese TRAPS patients. There were six sporadic cases of TRAPS without TNFRSFLA mutation in our epidemiological study. 3) We recognized unique clinical symptoms (recurrent fever, lipodystrophy, hypertrophic osteoperiostosis, skin eruptions, calcification of the basal ganglia, etc)in two cases similar to Nakajo syndrome which was reported by Dr. Atsushi Nakajo in 1939. This autosomal recessive inherited syndrome might be a new autoinflammatory syndrome.
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[Journal Article] A case of periodic-fever-syndrome-like disorder with lipodystrophy, myositis, and autoimmune abnormalities2008
Author(s)
Kasagi, S., Kawano, S., Nakazawa, T., Sugino, H., Koshiba, M., Ichinose, K., Ida, H., Eguchi, K., Kumagai, S
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Journal Title
Mod Rheumatol 18(2)
Pages: 203-207
Description
「研究成果報告書概要(欧文)」より
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[Journal Article] Acute hepatitis in a patient with Familial Mediterranean Fever2008
Author(s)
Migita, K., Abiru, S., Tanaka, M., Ito, M., Miyashita, T., Maeda, Y., Koga, T., Nakamura, M., Komori, A., Yatsuhashi, H., Ida, H., Eguchi, K., Hirayama, K., Yasunami, M., Ishibashi, H
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Journal Title
Liver Int 28(1)
Pages: 140-142
Description
「研究成果報告書概要(欧文)」より
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[Journal Article] La autoantigen translocates to cytoplasm after cleavage during granzyme B-mediated cytotoxicity2007
Author(s)
Huang, M., Ida, H., Arima, K., Nakamura, H., Aramaki, T., Fujikawa, K., Tamai, M., Kamachi, M., Kawakami, A., Yamasaki, H., Origuchi, T., Eguchi, K
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Journal Title
Life Sciences 81(19-20)
Pages: 1461-1466
Description
「研究成果報告書概要(欧文)」より
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[Journal Article] Successful treatment using Tacrolimus(FK506) in a patient with TNF receptor-associated periodic syndrome(TRAPS) complicated by monocytic fasciitis2006
Author(s)
Ida, H., Aramaki, T., Arima, K., Origuchi, T., Kawakami, A., Eguchi, K
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Journal Title
Rheumatology 45(9)
Pages: 1171-1173
Description
「研究成果報告書概要(欧文)」より
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[Journal Article] Characterization of peripheral natural killer cells in primary Sjogren's syndrome : impaired NK cell activity and low NK cell number2006
Author(s)
Izumi, Y., Ida, H., Huang, M., Iwanaga, N., Tanaka, F., Aratake, K., Arima, K., Tamai, M., Kamachi, M., Nakamura, H., Origuchi, T., Kawakami, A., Anderson, P., Eguchi, K
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Journal Title
J Lab Clin Med 147(5)
Pages: 242-249
Description
「研究成果報告書概要(欧文)」より
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[Presentation] TNF receptor-associated periodic syndrome(TRAPS) in Japan : Prevalence and Characteristics of Japanese Patients with TRAPS2007
Author(s)
Ida, H., Aramaki, T., Ichinose, K., Kawakami, A., Migita, K., Eguchi, K
Organizer
ACR
Place of Presentation
Boston
Year and Date
20071106-11
Description
「研究成果報告書概要(欧文)」より
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[Presentation] Successful Treatment Using Tacrolimus(FK506) in A Patient with TNF Receptor-Associated Periodic Syndrome(TRAPS) Complicated by Monocytic Faciitis2006
Author(s)
Ida, H., Aramaki, T., Izumi, Y., Huang, M., Arima, K., Fujilcawa, K., Iwanaga, K., Aratake, K., Tamai, M., Kamachi, M., Nakamura, H., Origuchi, T., Kawakami, A., Eguchi, K
Organizer
Asia Pacific League of Associations for Rheumatology Congress
Place of Presentation
Malaysia
Year and Date
20060801-05
Description
「研究成果報告書概要(欧文)」より
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