Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Komplement C5-Mangel

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.

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.

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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4.

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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5.

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

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6.

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

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7.

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

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8.

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

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9.

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

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10.

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

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11.

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

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12.

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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13.

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

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