Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Komplement C7-Mangel

Komplement C7-Mangel ist eine ausosomal rezessive Erkrankung, die durch Mutationen im Gen C7 gekennzeichnet ist und kann zu verschiedenen immunologischen Störungen führen kann, insbesondere Störungen der Abwehr von Meningokokken-Infektionen.

Epidemiologie

Der C7-Mangel hat in Japan eine Häufigkeit von etwa 1/14000.[1]

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.

Coto E et. al. (1991) DNA polymorphisms and linkage relationship of the human complement component C6, C7, and C9 genes.

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2.

Lachmann PJ et. al. (1978) Combined genetic deficiency of C6 and C7 in man.

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3.

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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4.

Nishizaka H et. al. (1996) Genetic bases of human complement C7 deficiency.

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5.

Fernie BA et. al. (1997) Molecular bases of C7 deficiency: three different defects.

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6.

Fernie BA et. al. (1998) Complement C7 deficiency: seven further molecular defects and their associated marker haplotypes.

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7.

Schlesinger M et al. (1990) Prevalence of hereditary properdin, C7 and C8 deficiencies in patients with meningococcal infections.

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8.

Lee TJ et. al. (1978) Familial deficiency of the seventh component of complement associated with recurrent bacteremic infections due to Neisseria.

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9.

Petersen BH et. al. (1979) Neisseria meningitidis and Neisseria gonorrhoeae bacteremia associated with C6, C7, or C8 deficiency.

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10.

Rittner C et. al. (1976) Lack of linkage between gene(s) controlling the synthesis of the seventh component of complement and the HLA region on chromosome No. 6 in man.

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11.

Delâge JM et. al. (1977) Hereditary C7 deficiency. Diagnosis and HLA studies in a French-Canadian family.

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12.

Boyer JT et. al. (1975) Hereditary deficiency of the seventh component of complement.

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13.

Friduss SR et. al. (1992) Fatal pyoderma gangrenosum in association with C7 deficiency.

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14.

Nürnberger W et. al. (1989) Familial deficiency of the seventh component of complement associated with recurrent meningococcal infections.

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15.

Zimran A et. al. (1987) Hereditary complement deficiency in survivors of meningococcal disease: high prevalence of C7/C8 deficiency in Sephardic (Moroccan) Jews.

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16.

Adams EM et. al. (1983) Absence of the seventh component of complement in a patient with chronic meningococcemia presenting as vasculitis.

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17.

Clough JD et. al. (1980) Familial late complement component (C6, C7) deficiency with chronic meningococcemia.

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18.

Egan LJ et. al. (1994) Hereditary deficiency of the seventh component of complement and recurrent meningococcal infection: investigations of an Irish family using a novel haemolytic screening assay for complement activity and C7 M/N allotyping.

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19.

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

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