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MODERN RHEUMATOLOGY Vol.10 No.4
>MR10-4
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| Behcet's disease associated with complement component 9 (C9) deficiency |
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| T. Horiuchi1, H. Tsukamoto1, T. Sawabe1, S. Harashima1, C. Morita1, Y. Kashiwagi1, D. Himeji1, K. Masumoto 1, T. Otsuka1, T. Kusaba2, K. Nagasawa3 |
(1)Medicine and Biosystemic Science, Kyushu University Graduate School of Medical Sciences, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan Tel. +81-92-642-5233; Fax +81-92-642-5247 e-mail: horiuchi@intmed1.med.kyushu-u.ac.jp
(2)Munakata Medical Association Hospital, Fukuoka, Japan
(3)Department of Internal Medicine, Saga Medical School, Saga, Japan |
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| Abstract |
| Abstract Behcet's disease is a multisystem inflammatory disorder with unknown etiology. It has been shown that the titer of plasma complement component 9 (C9) is a good indicator of the disease activity. Therefore, the involvement of C9 in the pathogenesis of Behcet's disease has been suggested. We report a case of Behcet's disease associated with complete C9 deficiency (C9D) carrying the homozygous nonsense mutation at Arg-95 of C9 (R95X). The patient presented the typical characteristics of Behcet's disease, such as uveitis, recurrent oral aphthae and genital ulcers, and arthritis, suggesting that C9 does not play an essential role in the pathogenesis of Behcet's disease. |
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| Key words |
| Key words Behcet's disease ・ Complement component 9 (C9) ・ Complement deficiency |
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