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MR Vol.10 No.4 indexに戻る
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MODERN RHEUMATOLOGY
Vol.10 No.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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