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Komplement C8-Mangel Typ 2

Als Komplement C8-Mangel Typ 2 wird eine Mangel der beta-Untereinheit des Proteins verstanden. Klinisch lässt sich der Typ 2 vom Typ 1 (alpha-Untereinheit betreffend) nicht unterscheiden. Beide Typen sind für eine gestörte Abwehr insbesondere von Meningokokken-Infektionen verantwortlich.

Gliederung

Komplement C8-Mangel
C8G
Komplement C8-Mangel Typ 1
Komplement C8-Mangel Typ 2
C8B

Referenzen:

1.

Saucedo L et al. (1995) Delineation of additional genetic bases for C8 beta deficiency. Prevalence of null alleles and predominance of C-->T transition in their genesis.

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2.

Kaufmann T et al. (1993) Genetic basis of human complement C8 beta deficiency.

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3.

Ross SC et al. (1984) Complement deficiency states and infection: epidemiology, pathogenesis and consequences of neisserial and other infections in an immune deficiency.

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4.

Tedesco F et al. (1990) Two distinct abnormalities in patients with C8 alpha-gamma deficiency. Low level of C8 beta chain and presence of dysfunctional C8 alpha-gamma subunit.

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5.

Tedesco F et al. (1983) Two types of dysfunctional eighth component of complement (C8) molecules in C8 deficiency in man. Reconstitution of normal C8 from the mixture of two abnormal C8 molecules.

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6.

Raum D et al. (1979) Genetic control of the eighth component of complement.

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7.

Tanaka S et al. (1991) Gene responsible for deficient activity of the beta subunit of C8, the eighth component of complement, is located on mouse chromosome 4.

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8.

Wulffraat NM et al. (1994) Deficiency of the beta subunit of the eighth component of complement presenting as arthritis and exanthem.

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9.

OMIM.ORG article

Omim 613789 external link
Update: 14. August 2020
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