Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

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.

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.

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

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4.

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

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5.

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

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6.

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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7.

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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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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14.

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

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15.

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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16.

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

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17.

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

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18.

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

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19.

OMIM.ORG article

Omim 609536 [^]
Update: 10. Mai 2019