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Complement factor D (adipsin)

The protein encoded by the complement factor D gene (CFD) is a protease that activates the alternative complement pathway. Mutations cause the autosomal recessive complement factor D deficiency which is clinically characterized by hight susceptibility to neisseria and meningococcal infections.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Complement factor D deficiency
CFD
Meningococcal infection susceptibility
C3
C5
C7
C8A
C8B
C8G
C9
CD46
CFB
CFD
CFH
CFP

References:

1.

None (2001) Complement. First of two parts.

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2.

Weiss SJ et al. (1998) Complement factor D deficiency in an infant first seen with pneumococcal neonatal sepsis.

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3.

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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4.

Volanakis JE et al. (1977) Human factor D of the alternative complement pathway: purification and characterization.

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5.

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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6.

Rosen BS et al. (1989) Adipsin and complement factor D activity: an immune-related defect in obesity.

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7.

Stanton CM et al. (2011) Complement factor D in age-related macular degeneration.

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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.

Abrera-Abeleda MA et al. (2007) Mesangial immune complex glomerulonephritis due to complement factor D deficiency.

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10.

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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11.

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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12.

Xu Y et al. (2001) Complement activation in factor D-deficient mice.

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13.

Biesma DH et al. (2001) A family with complement factor D deficiency.

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14.

Hobart MJ et al. (1976) Allotypes of complement components in man.

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15.

OMIM.ORG article

Omim 134350 external link
16.

Orphanet article

Orphanet ID 221187 external link
17.

NCBI article

NCBI 1675 external link
Update: Aug. 14, 2020
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