Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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.
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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
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