Congenital Complement Deficiency: Its Clinical Features and Genetic Abnormalities

Hara Juro Ryutaro Kira, Kenji Ihara, Hidetoshi Takada

研究成果: ジャーナルへの寄稿学術誌査読

抄録

The clinical findings and genetic bases of inherited deficiencies of plasma complement components and complement control proteins are reviewed. In Japan, since the frequencies of late complement component deficiencies (LCCD) are high, clinical features of neisserial infections associated with LCCD are described in details. C 9 deficiency is one of the most frequent genetic disorders in Japan and most of them are healthy. However, C 9 deficiency is weakly but significantly associated with the development of meningococcal meningitis but not of systemic lupus erythematosus. The common Arg 95 Stop mutation was found in most individuals with C 9 deficiency. Molecular epidemiologic study revealed that homozygous and heterozygous Arg 95 Stop mutation of C 9 gene is found in approximately one of 1000 individuals and one of 15 individuals, respectively. Complement studies including C 9 antigen and DNA analyses should be performed in patients with meningococcal meningitis or recurrent bacterial infections.

本文言語英語
ページ(範囲)53-62
ページ数10
ジャーナルJapanese Journal of Clinical Immunology
22
2
DOI
出版ステータス出版済み - 1999
外部発表はい

!!!All Science Journal Classification (ASJC) codes

  • 免疫アレルギー学
  • 免疫学

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