Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Komplement C4B-Mangel

Komplement C4B-Mangel ist eine ausosomal rezessive Erkrankung, die durch Mutationen im Gen C4B 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
Komplement C4B-Mangel
C4B
Partieller Komplement C4-Mangel

Referenzen:

1.

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

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2.

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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3.

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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4.

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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5.

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

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6.

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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7.

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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8.

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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9.

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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10.

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

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11.

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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12.

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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13.

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

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14.

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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15.

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

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16.

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

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17.

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

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18.

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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19.

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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20.

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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21.

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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22.

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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23.

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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24.

Meo T et. al. (1975) Immunochemical characterization of murine H-2 controlled Ss (serum substance) protein through identification of its human homologue as the fourth component of complement.

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25.

O'Neill GJ et. al. (1978) Chido and Rodgers blood groups are distinct antigenic components of human complement C4.

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26.

Ochs HD et. al. (1977) Linkage between the gene (or genes) controlling synthesis of the fourth component of complement and the major histocompatibility complex.

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27.

Hall RE et. al. (1977) Cell-free synthesis of the fourth component of guinea pig complement (C4): identification of a precursor of serum C4 (pro-C4).

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28.

Cunningham-Rundles C et. al. (1977) Are HLA and Chido related antigenic groups?

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29.

Cunningham-Rundles C et. al. (1977) Chemical studies on the Chido antigen.

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30.

Olaisen B et. al. (1979) Human complement C4 locus is duplicated on some chromosomes.

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31.

Cream JJ et. al. (1979) Genetic basis of acquired C4 deficiency.

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32.

Petersen GB et. al. (1979) Genetic studies of complement C4 in man.

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33.

Brade V et. al. (1977) Biosynthesis of pro-C3, a precursor of the third component of complement.

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34.

Porter RR et. al. (1978) The biochemistry of complement.

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35.

O'Neill GJ et. al. (1978) Chido and Rodgers blood groups: relationship to C4 and HLA.

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36.

None (1976) The S region of the mouse major histocompatibility complex (H-2): genetic variation and functional role in complement system.

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37.

Hobart MJ et al. (1976) Allotypes of complement components in man.

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38.

Krönke M et. al. (1977) Linkage of guinea pig Bf and C4 TO THE GPLA.

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39.

Schaller JG et. al. () Severe systemic lupus erythematosus with nephritis in a boy with deficiency of the fourth component of complement.

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40.

Lachmann PJ et. al. (1975) Identification of Ss protein as murine C4.

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41.

Curman B et. al. (1975) H-2 linked Ss protein is C4 component of complement.

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42.

Fasano MB et. al. (1992) A unique recombination event resulting in a C4A*Q0,C4B*Q0 double null haplotype.

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43.

Kramer J et. al. (1991) A marked drop in the incidence of the null allele of the B gene of the fourth component of complement (C4B*Q0) in elderly subjects: C4B*Q0 as a probable negative selection factor for survival.

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44.

Eikelenboom P et. al. (1988) Complement C4 phenotypes in dementia of the Alzheimer type.

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45.

Welch TR et. al. (1985) C4 uremic variant: an acquired C4 allotype.

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46.

Whitehead AS et. al. (1985) Localization of the human MHC-linked complement genes between HLA-B and HLA-DR by using HLA mutant cell lines.

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47.

Ellman L et. al. (1970) Genetically controlled total deficiency of the fourth component of complement in the guinea pig.

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48.

Rosenfeld SI et. al. (1969) Structural polymorphism of the fourth component of human complement.

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49.

Wank R et. al. (1984) Rare variant of complement C4 is seen in high frequency in patients with primary glomerulonephritis.

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50.

Fontaine M et. al. (1980) A common antigenic determinant on human C4b and C3b.

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51.

Roos MH et. al. (1982) A molecular basis for the two locus model of human complement component C4.

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52.

Nerl C et. al. (1984) HLA-linked complement markers in Alzheimer's and Parkinson's disease: C4 variant (C4B2) a possible marker for senile dementia of the Alzheimer type.

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53.

Carroll MC et. al. () A molecular map of the human major histocompatibility complex class III region linking complement genes C4, C2 and factor B.

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54.

Carroll MC et. al. (1983) Cloning of a human complement component C4 gene.

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55.

Chan AC et. al. (1983) Identification and partial characterization of the secreted form of the fourth component of human complement: evidence that it is different from major plasma form.

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56.

None (1984) A new genetic variant for Chido.

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57.

Rittner C et. al. (1981) On the significance of C2, C4, and factor B polymorphisms in disease.

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58.

Pollack MS et. al. (1980) HLA typing of cultured amniotic cells for the prenatal diagnosis of complement C4 deficiency.

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59.

Lhotta K et. al. (1996) Complement C4 phenotypes in patients with end-stage renal disease.

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60.

Szalai C et. al. (2002) Association of polymorphisms and allelic combinations in the tumour necrosis factor-alpha-complement MHC region with coronary artery disease.

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61.

Hall RE et. al. (1978) Genetic defect in biosynthesis of the precursor form of the fourth component of complement.

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62.

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

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