Komplement C6-Mangel ist eine ausosomal rezessive Erkrankung, die durch Mutationen im Gen C6 gekennzeichnet ist und kann zu verschiedenen immunologischen Störungen führen kann, insbesondere Störungen der Infektabwehr und Autoimmunphänomene. Oft bleibt dieser Mangel allerdings auch asymptomatisch.
Der C6-Mangel hat in Japan eine Häufigkeit von etwa 1/40000.[Error: Macro 'ref' doesn't exist]
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2. |
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Tedesco F et al. (1981) A lupus-like syndrome in a patient with deficiency of the sixth component of complement. |
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Hobart MJ et al. (1993) A physical map of the C6 and C7 complement component gene region on chromosome 5p13. |
6. |
Nishizaka H et al. (1996) Molecular bases for inherited human complement component C6 deficiency in two unrelated individuals. |
7. |
Zhu ZB et al. (1998) Molecular defects leading to human complement component C6 deficiency in an African-American family. |
8. |
Hobart MJ et al. (1998) The molecular basis of C6 deficiency in the western Cape, South Africa. |
9. |
Fukumori Y et al. (1998) Terminal complement component deficiencies in Japan. |
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Reinitz E et al. (1986) Arthritis and antinuclear antibodies (ANA) with inherited deficiency of the sixth component of complement (C6). |
11. |
Kernbaum S et al. (1980) Human deficiency of the sixth component of complement in a patient with meningococcal meningitis and no haemostasis abnormality. |
12. |
Ellison RT et al. (1983) Prevalence of congenital or acquired complement deficiency in patients with sporadic meningocococcal disease. |
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Leddy JP et al. (1974) Hereditary deficiency of the sixth component of complement in man. I. Immunochemical, biologic, and family studies. |
14. |
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Raum D et al. (1980) Genetic polymorphism of serum complement components in the chimpanzee. |
16. |
OMIM.ORG article Omim 612446 |