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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15. |
OMIM.ORG article
Omim 134350 [^]
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16. |
Orphanet article
Orphanet ID 221187 [^]
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17. |
NCBI article
NCBI 1675 [^]
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Update: 9. Mai 2019