Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Complementfaktor-D-Mangel

Der Complementfaktor D Mangel ist eine autosomal rezessive Erkrankung, die durch Mutationen des CFD-Gens hevorgerufen wird und zu schweren Infektionen führen kann, insbesondere von Neisserien und Meningokokken.

Gliederung

Erbliche Complementstörungen
CR1-Mangel
Complementfactor-Properdin-Mangel
Complementfaktor I-Mangel
Complementfaktor-D-Mangel
CFD
Frühe Komplementdefekte
Hereditäres Angioödem
Komplement C3-Mangel
Komplement C4-Mangel
Terminale Komplementdefekte
Thrombotische Mikroangiopathien

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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