Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Komplement C4A-Mangel

Komplement C4A-Mangel ist eine ausosomal rezessive Erkrankung, die durch Mutationen im Gen C4A gekennzeichnet ist und zu verschiedenen immunologischen Störungen führen kann, insbesondere Störungen der Infektabwehr und Autoimmunphänomene.

Epidemiologie

Der partielle C4-Mangel hat in Japan eine Häufigkeit von etwa 1/10000.

Gliederung

Komplement C4-Mangel
Komplement C4A-Mangel
C4A
Komplement C4B-Mangel
Partieller Komplement C4-Mangel

Referenzen:

1.

Lamm LU et. al. (1977) On the HLA-B,D map distance.

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2.

O'Neill GJ et. al. (1978) Two HLA-linked loci controlling the fourth component of human complement.

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3.

Jackson CG et. al. (1979) Immune response of a patient with deficiency of the fourth component of complement and systemic lupus erythematosus.

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4.

Awdeh ZL et. al. (1979) Genetic polymorphism of human complement C4 and detection of heterozygotes.

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5.

Giles CM et. al. (1976) Rga (Rodgers) and the HLA region: linkage and associations.

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6.

Teisberg P et. al. (1976) Genetic polymorphism of C4 in man and localisation of a structural C4 locus to the HLA gene complex of chromosome 6.

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7.

Ebanks RO et. al. (1992) A single arginine to tryptophan interchange at beta-chain residue 458 of human complement component C4 accounts for the defect in classical pathway C5 convertase activity of allotype C4A6. Implications for the location of a C5 binding site in C4.

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8.

None (1991) The complete exon-intron structure of a human complement component C4A gene. DNA sequences, polymorphism, and linkage to the 21-hydroxylase gene.

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9.

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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10.

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

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11.

Carroll MC et. al. (1990) Substitution of a single amino acid (aspartic acid for histidine) converts the functional activity of human complement C4B to C4A.

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12.

Yu CY et. al. (1986) Structural basis of the polymorphism of human complement components C4A and C4B: gene size, reactivity and antigenicity.

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13.

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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14.

Palsdottir A et. al. (1987) Heterogeneity of human C4 gene size. A large intron (6.5 kb) is present in all C4A genes and some C4B genes.

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15.

Teisberg P et. al. (1988) Restriction fragment length polymorphisms of the complement component C4 loci on chromosome 6: studies with emphasis on the determination of gene number.

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16.

White PC et. al. (1985) Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man.

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17.

Robinson MA et. al. (1985) Localization of C4 genes within the HLA complex by molecular genotyping.

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18.

Prentice HL et. al. (1986) C4B gene polymorphism detected in a human cosmid clone.

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19.

Schneider PM et. al. (1986) Polymorphism of the human complement C4 and steroid 21-hydroxylase genes. Restriction fragment length polymorphisms revealing structural deletions, homoduplications, and size variants.

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20.

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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21.

Carroll MC et. al. (1987) Polymorphism and molecular genetics of human C4.

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22.

Wilton AN et. al. (1986) Order of class III genes relative to HLA genes determined by the haplotype method.

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23.

Belt KT et. al. (1985) Polymorphism of human complement component C4.

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24.

Carroll MC et. al. (1985) Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man.

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25.

Sjöholm AG et. al. (1985) C4 allotypes and HLA-DR antigens in the family of a patient with C4 deficiency.

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26.

Rittner C et. al. (1984) An international reference typing for Ch and Rg determinants on rare human C4 allotypes.

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27.

Palsdottir A et. al. () Correlation between a DNA restriction fragment length polymorphism and C4A6 protein.

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28.

Olaisen B et. al. (1983) Gene order and gene distances in the HLA region studied by the haplotype method.

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29.

Mauff G et. al. (1984) Human C4 polymorphism: pedigree analysis of qualitative, quantitative, and functional parameters as a basis for phenotype interpretations.

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30.

Whitehead AS et. al. (1983) Use of a cDNA clone for the fourth component of human complement (C4) for analysis of a genetic deficiency of C4 in guinea pig.

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31.

Whitehead AS et. al. (1984) DNA polymorphism of the C4 genes. A new marker for analysis of the major histocompatibility complex.

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32.

Raum D et. al. (1984) Human C4 haplotypes with duplicated C4A or C4B.

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33.

Mascart-Lemone F et. al. (1983) Genetic deficiency of C4 presenting with recurrent infections and a SLE-like disease. Genetic and immunologic studies.

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34.

Mauff G et. al. (1983) The C4 beta-chain: evidence for a genetically determined polymorphism.

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35.

Awdeh ZL et. al. (1980) Inherited structural polymorphism of the fourth component of human complement.

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36.

Bruun-Petersen G et. al. (1981) Family studies of complement C4 and HLA in man.

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37.

Kjellman M et. al. (1982) Homozygous deficiency of C4 in a child with a lupus erythematosus syndrome.

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38.

Bruun-Petersen G et. al. (1982) Genetics of complement C4. Two homoduplication haplotypes C4S C4S and C4F C4F in a family.

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39.

Lundwall A et. al. (1981) Isolation of component C4 of human complement and its polypeptide chains.

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40.

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

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41.

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

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42.

Jiang PP et. al. (1996) Localization of the mouse gene releasing sex-limited expression of Slp.

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43.

Suto Y et. al. (1996) Visual demonstration of the organization of the human complement C4 and 21-hydroxylase genes by high-resolution fluorescence in situ hybridization.

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44.

Schneider PM et. al. (2001) The endogenous retroviral insertion in the human complement C4 gene modulates the expression of homologous genes by antisense inhibition.

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45.

Chung EK et. al. (2002) Determining the one, two, three, or four long and short loci of human complement C4 in a major histocompatibility complex haplotype encoding C4A or C4B proteins.

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46.

Chung EK et. al. (2002) Genetic sophistication of human complement components C4A and C4B and RP-C4-CYP21-TNX (RCCX) modules in the major histocompatibility complex.

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47.

Nelson KC et. al. (2006) Role of different pathways of the complement cascade in experimental bullous pemphigoid.

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48.

Yang Y et. al. (2007) Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European Americans.

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49.

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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50.

Yammani RD et. al. (2014) C4 Deficiency is a predisposing factor for Streptococcus pneumoniae-induced autoantibody production.

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