Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Komplement C5-Mangel

Komplement C5-Mangel ist eine ausosomal rezessive Erkrankung, die durch Mutationen im Gen C5 gekennzeichnet ist und kann zu verschiedenen immunologischen Störungen führen kann, insbesondere Störungen der Infektabwehr insbesondere eine gestörte Opsonierung und damit verbunden Phagozytose.

Epidemiologie

Der C5-Mangel hat in Japan eine Häufigkeit von etwa 1/50000.[1]

Klinischer Befund

Bei den wenigen bisher bekannten Fällen wurde seborrhoischer Dermatitis, therapiresistente Diarhoe, wiederholte Infekte insbesondere mit gram-negativen Bakterien und Auszehrung beobachtet.

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.

Wetsel RA et. al. (1990) Deficiency of the murine fifth complement component (C5). A 2-base pair gene deletion in a 5'-exon.

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2.

Wang X et. al. (1995) Inherited human complement C5 deficiency. Nonsense mutations in exons 1 (Gln1 to Stop) and 36 (Arg1458 to Stop) and compound heterozygosity in three African-American families.

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3.

Snyderman R et. al. (1979) Deficiency of the fifth component of complement in human subjects. Clinical, genetic and immunologic studies in a large kindred.

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4.

Rosenfeld SI et. al. (1976) Hereditary deficiency of the fifth component of complement in man. II. Biological properties of C5-deficient human serum.

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5.

Sanal O et. al. (1992) Complement component deficiencies and infection: C5, C8 and C3 deficiencies in three families.

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6.

Shield JP et. al. (1992) Lethal congenital erythroderma: a newly recognised genetic disorder.

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7.

Asghar SS et. al. (1991) Hereditary deficiency of C5 in association with discoid lupus erythematosus.

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8.

Schifferli JA et. al. (1985) Meningococcal meningitis in the first case of complement deficiency.

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9.

Glover MT et. al. (1988) Syndrome of erythroderma, failure to thrive, and diarrhea in infancy: a manifestation of immunodeficiency.

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10.

Simon C et. al. (1965) [On a fatally progressing disease of 3 brothers under the picture of erythrodermia desquamativa Leiner].

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11.

Jacobs JC et. al. (1972) Fatal familial Leiner's disease: a deficiency of the opsonic activity of serum complement.

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12.

Miller ME et. al. (1970) A familial deficiency of the phagocytosis-enhancing activity of serum related to a dysfunction of the fifth component of complement (C5).

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13.

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

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