Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Complementfaktor I-Mangel

Der Complementfaktor I-Mangel ist eine autosomal rezessive Erkrankung, die durch eine Infektionsneigung gekennzweichnet ist.

Gliederung

Erbliche Complementstörungen
CR1-Mangel
Complementfactor-Properdin-Mangel
Complementfaktor I-Mangel
CFI
Complementfaktor-D-Mangel
Frühe Komplementdefekte
Hereditäres Angioödem
Komplement C2-Mangel
Komplement C3-Mangel
Komplement C4-Mangel
Komplement C5-Mangel
Komplement C6-Mangel
Komplement C7-Mangel
Komplement C8-Mangel
Komplement C9-Mangel
Terminale Komplementdefekte
Thrombotische Mikroangiopathien

Referenzen:

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 external link
Update: 14. August 2020
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