Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

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.[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
Komplement C7-Mangel
C7
Komplement C8-Mangel
Komplement C9-Mangel
Terminale Komplementdefekte
Thrombotische Mikroangiopathien

Referenzen:

1.

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

external link
2.

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

external link
3.

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.

external link
4.

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

external link
5.

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

external link
6.

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

external link
7.

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

external link
8.

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

external link
9.

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

external link
10.

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

external link
11.

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.

external link
12.

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

external link
13.

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

external link
14.

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

external link
15.

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

external link
16.

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

external link
17.

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

external link
18.

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.

external link
19.

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

external link
20.

OMIM.ORG article

Omim 610102 external link
Update: 14. August 2020
Copyright © 2005-2020 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz