Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Komplement C6-Mangel

Komplement C6-Mangel ist eine ausosomal rezessive Erkrankung, die durch Mutationen im Gen C6 gekennzeichnet ist und kann zu verschiedenen immunologischen Störungen führen kann, insbesondere Störungen der Infektabwehr und Autoimmunphänomene. Oft bleibt dieser Mangel allerdings auch asymptomatisch.

Epidemiologie

Der C6-Mangel hat in Japan eine Häufigkeit von etwa 1/40000.[Error: Macro 'ref' doesn't exist]

Gliederung

Erbliche Complementstörungen
CR1-Mangel
Complementfactor-Properdin-Mangel
Complementfaktor I-Mangel
Complementfaktor-D-Mangel
Frühe Komplementdefekte
Hereditäres Angioödem
Komplement C2-Mangel
Komplement C3-Mangel
Komplement C4-Mangel
Komplement C5-Mangel
Komplement C6-Mangel
C6
Komplement C7-Mangel
Komplement C8-Mangel
Komplement C9-Mangel
Terminale Komplementdefekte
Thrombotische Mikroangiopathien

Referenzen:

1.

Fernie BA et al. (1996) Molecular bases of combined subtotal deficiencies of C6 and C7: their effects in combination with other C6 and C7 deficiencies.

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2.

Vogler LB et al. (1979) Recurrent meningococcal meningitis with absence of the sixth component of complement: an evaluation of underlying immunologic mechanisms.

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3.

Tedesco F et al. (1981) A lupus-like syndrome in a patient with deficiency of the sixth component of complement.

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4.

Würzner R et al. (1995) Molecular basis of subtotal complement C6 deficiency. A carboxy-terminally truncated but functionally active C6.

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5.

Hobart MJ et al. (1993) A physical map of the C6 and C7 complement component gene region on chromosome 5p13.

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6.

Nishizaka H et al. (1996) Molecular bases for inherited human complement component C6 deficiency in two unrelated individuals.

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7.

Zhu ZB et al. (1998) Molecular defects leading to human complement component C6 deficiency in an African-American family.

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8.

Hobart MJ et al. (1998) The molecular basis of C6 deficiency in the western Cape, South Africa.

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9.

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

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10.

Reinitz E et al. (1986) Arthritis and antinuclear antibodies (ANA) with inherited deficiency of the sixth component of complement (C6).

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11.

Kernbaum S et al. (1980) Human deficiency of the sixth component of complement in a patient with meningococcal meningitis and no haemostasis abnormality.

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12.

Ellison RT et al. (1983) Prevalence of congenital or acquired complement deficiency in patients with sporadic meningocococcal disease.

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13.

Leddy JP et al. (1974) Hereditary deficiency of the sixth component of complement in man. I. Immunochemical, biologic, and family studies.

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14.

Heusinkveld RS et al. (1974) Hereditary deficiency of the sixth component of complement in man. II. Studies of hemostasis.

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15.

Raum D et al. (1980) Genetic polymorphism of serum complement components in the chimpanzee.

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16.

OMIM.ORG article

Omim 612446 [^]
Update: 9. Mai 2019