Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Complement factor D deficiency

Complement factor D deficiency is an autosomal recessive disorder caused by mutations of the CFD gene. The disease results in a hight susceptibility to infection neisseria and Meningococcus.

Systematic

Hereditary complement disorders
CR1 deficiency
Complement C2 deficiency
Complement C3 deficiency
Complement C5 deficiency
Complement C6 deficiency
Complement C7 deficiency
Complement C8 deficiency
Complement C9 deficiency
Complement component C4 deficiency
Complement factor D deficiency
CFD
Complement factor I deficiency
Early pathway complement deficiencies
Hereditary Angioedema
Properdin deficiency, X-linked
Terminal pathway complement deficiencies
Thrombotic microangiopathies

References:

1.

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

[^]
2.

None (2001) Complement. First of two parts.

[^]
3.

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

[^]
4.

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

[^]
5.

White RT et al. (1992) Human adipsin is identical to complement factor D and is expressed at high levels in adipose tissue.

[^]
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.

[^]
7.

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

[^]
8.

Forneris F et al. (2010) Structures of C3b in complex with factors B and D give insight into complement convertase formation.

[^]
9.

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

[^]
10.

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

[^]
11.

Martin A et al. (1976) Haemolytic diffusion plate assays for factors B and D of the alternative pathway of complement activation.

[^]
12.

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

[^]
13.

Mathieson PW et al. (1997) Lipodystrophy in MCGN type II: the clue to links between the adipocyte and the complement system.

[^]
14.

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

[^]
Update: Sept. 26, 2018