先天性補体欠損症　　その臨床的特徴と遺伝子異常

• 原 寿郎

  九州大学大学院生殖発達医学専攻成長発達医学(九州大学医学部小児科学)

• 吉良 龍太郎

  九州大学大学院生殖発達医学専攻成長発達医学(九州大学医学部小児科学)

• 井原 健二

  九州大学大学院生殖発達医学専攻成長発達医学(九州大学医学部小児科学)

• 高田 英俊

  九州大学大学院生殖発達医学専攻成長発達医学(九州大学医学部小児科学)

書誌事項

タイトル別名

• Inherited deficiency of plasma complement component and complement control protein. The clinical finding and gene abnormality.

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. C9 deficiency is one of the most frequent genetic disorders in Japan and most of them are healthy. However, C9 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 C9 deficiency. Molecular epidemiologic study revealed that homozygous and heterozygous Arg 95 Stop mutation of C9 gene is found in approximately one of 1000 individuals and one of 15 individuals, respectively. Complement studies including C9 antigen and DNA analyses should be performed in patients with meningococcal meningitis or recurrent bacterial infections.

収録刊行物

• 日本臨床免疫学会会誌

  日本臨床免疫学会会誌 22 (2), 53-62, 1999

  日本臨床免疫学会

キーワード

• complement deficiency
• membrane attack complex
• bacterial infection
• collagen-vascular disease
• meningococcal meningitits

詳細情報

• CRID: 1390001204649489664
• NII論文ID: 10005514633
• NII書誌ID: AN00357971
• DOI: 10.2177/jsci.22.53
• ISSN: 13497413
• ISSN: 09114300
• PubMed: 11126655
• Web Site: http://www.jstage.jst.go.jp/article/jsci1978/22/2/22_2_53/_pdf
• Web Site: https://search.jamas.or.jp/link/ui/1999247084
• 本文言語コード: ja
• データソース種別:
  • JaLC
  • Crossref
  • PubMed
  • CiNii Articles
• 抄録ライセンスフラグ: 使用不可