Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Komplement C8-Mangel

Der Complementfaktor 8-Mangel ist eine autosomal rezessive Erkrankung, die durch Mutationen in einer der Untereinheiten alpha oder beta ausgelöst wird. Klinisch auffällig werden die Patienten vor allem durch schwere Neisserien-Infektionen, meist nach dem 10 Lebensjahr auftretend.

Einteilung

Es werden zwei Typen unterschieden. Der Typ 1 bezieht sich auf Mutationen in der alpha Untereinheit, Typ 2 in der beta Untereinheit. Klinisch sind beide Typen nicht zu unterscheiden. Für Mutationen in der gamma Untereinheit sind bisher noch keine klinischen Symptome bekannt.

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.

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

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2.

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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3.

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

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4.

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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5.

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

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6.

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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7.

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

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8.

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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9.

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

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10.

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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11.

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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12.

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

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13.

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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14.

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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