Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Komplement C2-Mangel

Der Mangel an Komplementfaktor C2 ist eine autosomal rezessive Erkrankung, die durch reduzierte C2-Plasmaspiegel und eine erhöhte Infektanfälligkeit gekennzeichnet ist. Da ein C2-Defizit von sonst gesunden Menschen sehr gut kompensiert wird, ist bei einer erhöhten Infektanfälligkeit stets auch nach anderen Ursachen zu suchen.

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.

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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2.

Day NK et al. (1976) Linkage of gene for C2 deficiency and the major histocompatibility complex MHC in man. Family study of a further case.

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3.

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

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4.

Jönsson G et al. (2005) Hereditary C2 deficiency in Sweden: frequent occurrence of invasive infection, atherosclerosis, and rheumatic disease.

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5.

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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6.

Saevarsdottir S et al. (2007) Mannan-binding lectin may facilitate the clearance of circulating immune complexes--implications from a study on C2-deficient individuals.

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7.

Hussain A et al. (2007) C2 deficiency primary meningococcal arthritis of the elbow by Neisseria meningitidis serogroup Y in a 12-year old girl.

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8.

Yuste J et al. (2010) Impaired opsonization with complement and phagocytosis of Streptococcus pyogenes in sera from subjects with inherited C2 deficiency.

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9.

Hauck F et al. (2011) Complement C2 deficiency disarranging innate and adaptive humoral immune responses in a pediatric patient: treatment with rituximab.

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10.

Jönsson G et al. (2012) Vaccination against encapsulated bacteria in hereditary C2 deficiency results in antibody response and opsonization due to antibody-dependent complement activation.

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11.

Miller EC et al. (2012) Overcoming C2 deficiency.

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12.

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

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13.

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

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14.

Raum D et al. (1979) Mapping of the structural gene for the second component of complement with respect to the human major histocompatibility complex.

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15.

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

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16.

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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17.

Raum D et al. (1976) The chromosomal order of genes controlling the major histocompatibility complex, properdin factor B, and deficiency of the second component of complement.

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18.

Leddy JP et al. (1975) Hereditary complement (C2) deficiency with dermatomyositis.

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19.

Einstein LP et al. (1975) Biosynthetic defect in monocytes from human beings with genetic deficiency of the second component of complement.

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20.

Day NK et al. (1975) Hereditary C2 deficiency: Genetic studies and association with the HL-A system.

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21.

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

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22.

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

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23.

Mahowald ML et al. (1979) Linkage relationship of C2 deficiency, HLA and glyoxalase I loci.

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24.

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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25.

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

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26.

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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27.

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

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28.

Seligmann M et al. (1979) Hereditary C2 deficiency associated with common variable immunodeficiency.

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29.

Gewurz A et al. () Homozygous C2 deficiency with fulminant lupus erythematosus: severe nephritis via the alternative complement pathway.

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30.

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

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31.

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

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32.

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

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33.

Wahl R et al. (1979) C2 deficiency and a lupus erythematosus-like illness: family re-evaluation.

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34.

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

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35.

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

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36.

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

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37.

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

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38.

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

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39.

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

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40.

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

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41.

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

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42.

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

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43.

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

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44.

Kim Y et al. (1977) Inherited deficiency of the second component of complement (C2) with membranoproliferative glomerulonephritis.

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