Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Komplement C1q-Mangel

Der C1q-Mangel ist eine autosomal rezessive Erkrankung, die durch inaktivierende Mutationen in einer der drei Komponenten C1QA, C1QB oder C1QC hervorgerufen wird. Klinische manifestiert sich diese Erkrankung in einer erhöhten Infektanfälligkeit oder in Autoimmunerkrankungen wir Lupus erythematodes.

Gliederung

Frühe Komplementdefekte
Komplement C1q-Mangel
C1QA
C1QB
C1QC
Komplement C1r/C1s-Mangel
Komplement C1s-Mangel

Referenzen:

1.

Topaloglu R et. al. (1996) Molecular basis of hereditary C1q deficiency associated with SLE and IgA nephropathy in a Turkish family.

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2.

Petry F et. al. (1997) Multiple identification of a particular type of hereditary C1q deficiency in the Turkish population: review of the cases and additional genetic and functional analysis.

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3.

Botto M et. al. (1998) Homozygous C1q deficiency causes glomerulonephritis associated with multiple apoptotic bodies.

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4.

McAdam RA et. al. (1988) A homozygous point mutation results in a stop codon in the C1q B-chain of a C1q-deficient individual.

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5.

Hannema AJ et. al. (1984) SLE like syndrome and functional deficiency of C1q in members of a large family.

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6.

Thompson RA et. al. (1980) A genetic defect of the C1q subcomponent of complement associated with childhood (immune complex) nephritis.

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7.

Slingsby JH et. al. (1996) Homozygous hereditary C1q deficiency and systemic lupus erythematosus. A new family and the molecular basis of C1q deficiency in three families.

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8.

None (1986) Summary of reported deficiencies.

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9.

Mampaso F et. al. (1981) Familial C1q deficiency in 3 siblings with glomerulonephritis and Rothmund-Thomson syndrome.

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10.

Garlanda C et. al. (2002) Non-redundant role of the long pentraxin PTX3 in anti-fungal innate immune response.

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