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Terminale Komplementdefekte

Defekte bei Komplementfaktoren des terminalen Abschnittes der Koplmemetaktivierung sind insbesondere durch Störungen der Infektabwehr gekennzeichnet. Dies betrifft besonders die Abwehr von Neisserien-Erkrankungen. Derartige Defekte betreffen die Faktoren C5-C9.

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
Komplement C8-Mangel
Komplement C9-Mangel
Terminale Komplementdefekte
Thrombotische Mikroangiopathien

Referenzen:

1.

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

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2.

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

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3.

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

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4.

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

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5.

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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6.

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

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7.

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

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8.

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

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9.

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

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10.

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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11.

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

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12.

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

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13.

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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14.

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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15.

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

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16.

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

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17.

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

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18.

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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19.

OMIM.ORG article

Omim 609536 external link
Update: 14. August 2020
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