| A Korean familial case of hereditary complement 7 deficiency |
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Moon Kyu Ki1, Kyung Yul Lee3, Jun Hwa Lee2 |
1Department of Immunology, School of Medicine, Kyungpook National University Hospital, Daegu, South Korea
2Department of Pediatrics, Masan Samsung Hospital, Sungkyunkwan University School of Medicine, Masan, South Korea
3Department of Physical Education, Kyungnam University, Masan, South Korea |
| 선천성 보체 7번 결핍을 가진 한국인 한 가족 |
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김문규1, 이경렬3, 이준화2 |
1경북대학교 의과대학 면역학교실
2성균관대학교 의과대학 마산삼성병원 소아청소년과
3경남대학교 체육교육학과 |
Correspondence:
Jun Hwa Lee, Email: ljh3643@hanmail.net, ljh3643@skku.edu
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| Abstract |
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Meningococcal infections can be associated with abnormalities of the complement system, which contains 5 terminal complement proteins. Furthermore, deficiencies in 1 of these 5, complement component 7 (C7), leads to the loss of complement lytic function, and affected patients show increased susceptibility to recurrent meningococcal meningitis and systemic Neisseria gonorrhoeae infection. In September 2003, an 11-year-old female patient presented at our outpatient department with high fever, lower leg pain, headache, and petechiaes. She rapidly progressed to coma but later achieved full recovery due to prompt treatment. Her final diagnosis was meningococcal sepsis and arthritis. Her elder brother also had a similar bacterial meningoencephalitis history, which encouraged us to perform analyses for complement component and gene mutations. Resultantly, both the brother and sister were found to have the same mutation in the C7 gene. Subsequently, vaccinations of the meningococcal vaccine meningococcal vaccine (MenomuneⓇ) were administered. However, in September 2006, the brother expired due to acute micrococcus meningoencephalitis. At present, the 16-year-old female patient is healthy. Here, we report a Korean family with a hereditary C7 deficiency with susceptibility to meningococcal infections due to C7 gene mutation. |
| Key Words:
Meningococcal infection, Complement 7 deficiency, Korean, C7 gene mutation, Meningococcal vaccine |
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