Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Komplement C4-Mangel

Gliederung

Erbliche Complementstörungen
CR1-Mangel
Complementfactor-Properdin-Mangel
Complementfaktor I-Mangel
Complementfaktor-D-Mangel
Frühe Komplementdefekte
Hereditäres Angioödem
Komplement C3-Mangel
Komplement C4-Mangel
Terminale Komplementdefekte
Thrombotische Mikroangiopathien

Referenzen:

1.

Braun L et. al. (1990) Null alleles of human complement C4. Evidence for pseudogenes at the C4A locus and for gene conversion at the C4B locus.

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2.

Welch TR et. al. (1990) Uniparental isodisomy 6 associated with deficiency of the fourth component of complement.

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3.

Partanen J et. al. (1989) Determination of deletion sizes in the MHC-linked complement C4 and steroid 21-hydroxylase genes by pulsed-field gel electrophoresis.

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4.

Partanen J et. al. (1988) C4 null phenotypes among lupus erythematosus patients are predominantly the result of deletions covering C4 and closely linked 21-hydroxylase A genes.

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5.

Awdeh ZL et. al. (1981) Genetic analysis of C4 deficiency.

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6.

Barba G et. al. (1993) Genetic basis of human complement C4A deficiency. Detection of a point mutation leading to nonexpression.

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7.

Boteva L et. al. (2012) Genetically determined partial complement C4 deficiency states are not independent risk factors for SLE in UK and Spanish populations.

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8.

Lhotta K et. al. (1990) Renal disease in a patient with hereditary complete deficiency of the fourth component of complement.

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9.

Vergani D et. al. (1985) Genetically determined low C4: a predisposing factor to autoimmune chronic active hepatitis.

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10.

Ranford P et. al. (1987) A high frequency of inherited deficiency of complement component C4 in Darwin Aborigines.

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11.

Huang DF et. al. (1995) Population and family studies of three disease-related polymorphic genes in systemic lupus erythematosus.

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