Komplement-Faktor D
Das Protein, welches durch das Complementfaktor D Gen (CFD) kodiert wird, ist eine Protease die aktivierend im alternativen Weg der Complementaktivierung wirkt. Mutationen führen zum autosomal rezessiven Complementfaktor D-Mangel, der sich insbesondere durch eine besondere Infektanfälligkeit gegenüber Neisserien und Meningokokken äußert.
Gentests:
| Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
| Bearbeitungszeit |
5 Tage |
| Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
| 1. |
Hobart MJ et al. (1976) Allotypes of complement components in man.
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| 2. |
None (2001) Complement. First of two parts.
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| 3. |
Biesma DH et al. (2001) A family with complement factor D deficiency.
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| 4. |
Xu Y et al. (2001) Complement activation in factor D-deficient mice.
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| 5. |
White RT et al. (1992) Human adipsin is identical to complement factor D and is expressed at high levels in adipose tissue.
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| 6. |
Sprong T et al. (2006) Deficient alternative complement pathway activation due to factor D deficiency by 2 novel mutations in the complement factor D gene in a family with meningococcal infections.
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| 7. |
Abrera-Abeleda MA et al. (2007) Mesangial immune complex glomerulonephritis due to complement factor D deficiency.
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| 8. |
Forneris F et al. (2010) Structures of C3b in complex with factors B and D give insight into complement convertase formation.
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| 9. |
Stanton CM et al. (2011) Complement factor D in age-related macular degeneration.
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| 10. |
Rosen BS et al. (1989) Adipsin and complement factor D activity: an immune-related defect in obesity.
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| 11. |
Martin A et al. (1976) Haemolytic diffusion plate assays for factors B and D of the alternative pathway of complement activation.
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| 12. |
Volanakis JE et al. (1977) Human factor D of the alternative complement pathway: purification and characterization.
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| 13. |
Mathieson PW et al. (1997) Lipodystrophy in MCGN type II: the clue to links between the adipocyte and the complement system.
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| 14. |
Weiss SJ et al. (1998) Complement factor D deficiency in an infant first seen with pneumococcal neonatal sepsis.
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Update: 26. September 2018
