Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Komplement C8-Mangel Typ 1

Gliederung

Komplement C8-Mangel
C8G
Komplement C8-Mangel Typ 1
C8A
Komplement C8-Mangel Typ 2

Referenzen:

1.

Kojima T et al. (1998) Genetic basis of human complement C8 alpha-gamma deficiency.

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2.

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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3.

Fukumori Y et. al. (1998) Terminal complement component deficiencies in Japan.

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4.

Petersen BH et al. (1976) Human deficiency of the eighth component of complement. The requirement of C8 for serum Neisseria gonorrhoeae bactericidal activity.

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5.

Jasin HE et al. (1977) Absence of the eighth component of complement in association with systemic lupus erythematosus-like disease.

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6.

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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7.

Matthews N et al. (1980) Recurrent meningococcal infections associated with a functional deficiency of the C8 component of human complement.

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8.

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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9.

Pickering RJ et al. (1982) Identification of the alpha-gamma subunit of the eighth component of complement (C8) in a patient with systemic lupus erythematosus and absent C8 activity: patients and family studies.

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