Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Complement factor I deficiency

Complement factor I deficiency is an autosomal recessive disorder caused by a propensity to pyogenic infections, caused by lloss-of-function mutations of the CFI gene.

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
Complement factor I deficiency
CFI
Early pathway complement deficiencies
Hereditary Angioedema
Properdin deficiency, X-linked
Terminal pathway complement deficiencies
Thrombotic microangiopathies

References:

1.

Servais A et al. (2007) Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome.

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2.

Vyse TJ et al. (1996) The molecular basis of hereditary complement factor I deficiency.

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3.

Sadallah S et al. (1999) Glomerulonephritis in a patient with complement factor I deficiency.

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4.

Baracho GV et al. (2003) Molecular characterization of homozygous hereditary factor I deficiency.

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5.

Alper CA et al. (1970) Studies in vivo and in vitro on an abnormality in the metabolism of C3 in a patient with increased susceptibility to infection.

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6.

Alper CA et al. (1970) Increased susceptibility to infection associated with abnormalities of complement-mediated functions and of the third component of complement (C3).

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7.

Alper CA et al. (1972) Inactivator of the third component of complement as an inhibitor in the properdin pathway.

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8.

Abramson N et al. (1971) Deficiency of C3 inactivator in man.

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9.

Thompson RA et al. (1977) A second case of human C3b inhibitor (KAF) deficiency.

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10.

OMIM.ORG article

Omim 610984 [^]
Update: May 9, 2019