Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Frühe Komplementdefekte

Defekten in den frühen Abschnitten der klassischen Komplementaktivierung zeichnen sich vor allem durch eine besondere Neigung zu Autoimmunerkrankungen aus. Es betrifft insbesondere die Faktoren C1q, C1r, C1s, C2, C4.

Gliederung

Erbliche Complementstörungen
CR1-Mangel
Complementfactor-Properdin-Mangel
Complementfaktor I-Mangel
Complementfaktor-D-Mangel
Frühe Komplementdefekte
Komplement C1q-Mangel
C1QA
C1QB
C1QC
Komplement C1r/C1s-Mangel
C1R
Komplement C1s-Mangel
C1S
Hereditäres Angioödem
Komplement C3-Mangel
Komplement C4-Mangel
Terminale Komplementdefekte
Thrombotische Mikroangiopathien

Referenzen:

1.

Braun L et. al. (1990) Null alleles of human complement C4. Evidence for pseudogenes at the C4A locus and for gene conversion at the C4B locus.

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2.

Welch TR et. al. (1990) Uniparental isodisomy 6 associated with deficiency of the fourth component of complement.

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3.

Partanen J et. al. (1989) Determination of deletion sizes in the MHC-linked complement C4 and steroid 21-hydroxylase genes by pulsed-field gel electrophoresis.

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4.

Partanen J et. al. (1988) C4 null phenotypes among lupus erythematosus patients are predominantly the result of deletions covering C4 and closely linked 21-hydroxylase A genes.

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5.

Awdeh ZL et. al. (1981) Genetic analysis of C4 deficiency.

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6.

Barba G et. al. (1993) Genetic basis of human complement C4A deficiency. Detection of a point mutation leading to nonexpression.

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7.

Boteva L et. al. (2012) Genetically determined partial complement C4 deficiency states are not independent risk factors for SLE in UK and Spanish populations.

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8.

Wolski KP et. al. (1976) Genetic linkage between the HL-A system and a deficit of the second component (C2) of complement in four generations of a family.

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9.

Johnson CA et. al. (1992) Molecular heterogeneity of C2 deficiency.

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10.

Johnson CA et. al. (1992) Type I human complement C2 deficiency. A 28-base pair gene deletion causes skipping of exon 6 during RNA splicing.

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11.

None (1986) Primary structure of human complement component C2. Homology to two unrelated protein families.

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12.

Dunham I et. al. (1987) Molecular mapping of the human major histocompatibility complex by pulsed-field gel electrophoresis.

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13.

Bentley DR et. al. (1984) Isolation of cDNA clones for human complement component C2.

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14.

Wetsel RA et. al. (1996) Type II human complement C2 deficiency. Allele-specific amino acid substitutions (Ser189 --> Phe; Gly444 --> Arg) cause impaired C2 secretion.

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15.

D'Cruz D et. al. (1992) Complement factor 2 deficiency: a clinical and serological family study.

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16.

None (1960) Essential hypocomplementemia: report of a case.

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17.

Simon S et. al. (1991) A restriction fragment of the C2 gene is a unique marker for C2 deficiency and the uncommon C2 allele C2*B (a marker for type 1 diabetes).

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18.

None (1968) Inherited c'2 deficiency in man: lack of immunochemically detectable c'2 protein in serums from deficient individuals.

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19.

Böttger EC et. al. (1986) Guinea pigs with inherited deficiencies of complement components C2 or C4 have characteristics of immune complex disease.

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20.

Cole FS et. al. (1985) The molecular basis for genetic deficiency of the second component of human complement.

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21.

Callen JP et. al. (1987) Subacute cutaneous lupus erythematosus in multiple members of a family with C2 deficiency.

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22.

Efthimiou J et. al. (1986) Heterozygous C2 deficiency associated with angioedema, myasthenia gravis, and systemic lupus erythematosus.

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23.

Klemperer MR et. al. (1966) Hereditary deficiency of the second component of complement (C'2) in man.

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24.

Ruddy S et. al. (1970) Inherited abnormalities of the complement system in man.

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25.

None (1967) Inborn errors of the complement system of man.

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26.

Colten HR et. al. (1981) Genetics and biosynthesis of complement proteins.

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27.

Provost TT et. al. (1983) Homozygous C2 deficiency, lupus erythematosus, and anti-Ro (SSA) antibodies.

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28.

McCarty DJ et. al. (1981) Serologic studies in a family with heterozygous C2 deficiency.

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29.

Belin DC et. al. (1980) Familial discoid lupus erythematosus associated with heterozygote C2 deficiency.

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30.

Riggs JE et. al. (1980) Heterozygous C2-deficiency and myasthenia gravis.

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31.

Mortensen JP et. al. (1980) Studies on the C2-deficiency gene in man.

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32.

Thong YH et. al. (1980) Homozygous deficiency of the second component of complement presenting with recurrent bacterial meningitis.

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33.

Awdeh ZL et. al. (1981) Complement-human histocompatibility antigen haplotypes in C2 deficiency.

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34.

Lhotta K et. al. (1990) Renal disease in a patient with hereditary complete deficiency of the fourth component of complement.

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35.

Vergani D et. al. (1985) Genetically determined low C4: a predisposing factor to autoimmune chronic active hepatitis.

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36.

Ranford P et. al. (1987) A high frequency of inherited deficiency of complement component C4 in Darwin Aborigines.

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37.

Huang DF et. al. (1995) Population and family studies of three disease-related polymorphic genes in systemic lupus erythematosus.

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