Komplement C7-Mangel ist eine ausosomal rezessive Erkrankung, die durch Mutationen im Gen C7 gekennzeichnet ist und kann zu verschiedenen immunologischen Störungen führen kann, insbesondere Störungen der Abwehr von Meningokokken-Infektionen.
Der C7-Mangel hat in Japan eine Häufigkeit von etwa 1/14000.[Error: Macro 'ref' doesn't exist]
1. |
Lachmann PJ et al. (1978) Combined genetic deficiency of C6 and C7 in man. |
2. |
Fukumori Y et al. (1998) Terminal complement component deficiencies in Japan. |
4. |
Clough JD et al. (1980) Familial late complement component (C6, C7) deficiency with chronic meningococcemia. |
5. |
Adams EM et al. (1983) Absence of the seventh component of complement in a patient with chronic meningococcemia presenting as vasculitis. |
6. |
Zimran A et al. (1987) Hereditary complement deficiency in survivors of meningococcal disease: high prevalence of C7/C8 deficiency in Sephardic (Moroccan) Jews. |
7. |
Nürnberger W et al. (1989) Familial deficiency of the seventh component of complement associated with recurrent meningococcal infections. |
8. |
Friduss SR et al. (1992) Fatal pyoderma gangrenosum in association with C7 deficiency. |
9. |
Boyer JT et al. (1975) Hereditary deficiency of the seventh component of complement. |
10. |
Delâge JM et al. (1977) Hereditary C7 deficiency. Diagnosis and HLA studies in a French-Canadian family. |
11. |
Rittner C et al. (1976) Lack of linkage between gene(s) controlling the synthesis of the seventh component of complement and the HLA region on chromosome No. 6 in man. |
12. |
Petersen BH et al. (1979) Neisseria meningitidis and Neisseria gonorrhoeae bacteremia associated with C6, C7, or C8 deficiency. |
13. |
Lee TJ et al. (1978) Familial deficiency of the seventh component of complement associated with recurrent bacteremic infections due to Neisseria. |
14. |
Schlesinger M et al. (1990) Prevalence of hereditary properdin, C7 and C8 deficiencies in patients with meningococcal infections. |
15. |
Fernie BA et al. (1998) Complement C7 deficiency: seven further molecular defects and their associated marker haplotypes. |
16. |
Fernie BA et al. (1997) Molecular bases of C7 deficiency: three different defects. |
17. |
Nishizaka H et al. (1996) Genetic bases of human complement C7 deficiency. |
18. |
Fernie BA et al. (1996) Molecular bases of combined subtotal deficiencies of C6 and C7: their effects in combination with other C6 and C7 deficiencies. |
19. |
Coto E et al. (1991) DNA polymorphisms and linkage relationship of the human complement component C6, C7, and C9 genes. |
20. |
OMIM.ORG article Omim 610102 |