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.
Der partielle C4-Mangel hat in Japan eine Häufigkeit von etwa 1/10000.
Komplement C4-Mangel | ||||
Komplement C4A-Mangel | ||||
C4A | ||||
Komplement C4B-Mangel | ||||
Partieller Komplement C4-Mangel | ||||
1. |
Kjellman M et al. (1982) Homozygous deficiency of C4 in a child with a lupus erythematosus syndrome. |
2. |
Sjöholm AG et al. (1985) C4 allotypes and HLA-DR antigens in the family of a patient with C4 deficiency. |
3. |
Rittner C et al. (1984) An international reference typing for Ch and Rg determinants on rare human C4 allotypes. |
4. |
Palsdottir A et al. () Correlation between a DNA restriction fragment length polymorphism and C4A6 protein. |
5. |
Olaisen B et al. (1983) Gene order and gene distances in the HLA region studied by the haplotype method. |
6. |
Mauff G et al. (1984) Human C4 polymorphism: pedigree analysis of qualitative, quantitative, and functional parameters as a basis for phenotype interpretations. |
7. |
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. |
8. |
Whitehead AS et al. (1984) DNA polymorphism of the C4 genes. A new marker for analysis of the major histocompatibility complex. |
9. |
Raum D et al. (1984) Human C4 haplotypes with duplicated C4A or C4B. |
10. |
Mascart-Lemone F et al. (1983) Genetic deficiency of C4 presenting with recurrent infections and a SLE-like disease. Genetic and immunologic studies. |
11. |
Mauff G et al. (1983) The C4 beta-chain: evidence for a genetically determined polymorphism. |
12. |
Awdeh ZL et al. (1980) Inherited structural polymorphism of the fourth component of human complement. |
13. |
Bruun-Petersen G et al. (1981) Family studies of complement C4 and HLA in man. |
14. |
Boteva L et al. (2012) Genetically determined partial complement C4 deficiency states are not independent risk factors for SLE in UK and Spanish populations. |
15. |
Bruun-Petersen G et al. (1982) Genetics of complement C4. Two homoduplication haplotypes C4S C4S and C4F C4F in a family. |
16. |
Lundwall A et al. (1981) Isolation of component C4 of human complement and its polypeptide chains. |
17. |
Awdeh ZL et al. (1981) Genetic analysis of C4 deficiency. |
18. |
Barba G et al. (1993) Genetic basis of human complement C4A deficiency. Detection of a point mutation leading to nonexpression. |
19. |
Jiang PP et al. (1996) Localization of the mouse gene releasing sex-limited expression of Slp. |
20. |
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. |
21. |
Schneider PM et al. (2001) The endogenous retroviral insertion in the human complement C4 gene modulates the expression of homologous genes by antisense inhibition. |
22. |
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. |
23. |
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. |
24. |
Nelson KC et al. (2006) Role of different pathways of the complement cascade in experimental bullous pemphigoid. |
25. |
Yammani RD et al. (2014) C4 Deficiency is a predisposing factor for Streptococcus pneumoniae-induced autoantibody production. |
26. |
Belt KT et al. (1985) Polymorphism of human complement component C4. |
28. |
Lamm LU et al. (1977) On the HLA-B,D map distance. |
29. |
O'Neill GJ et al. (1978) Two HLA-linked loci controlling the fourth component of human complement. |
30. |
Jackson CG et al. (1979) Immune response of a patient with deficiency of the fourth component of complement and systemic lupus erythematosus. |
31. |
Awdeh ZL et al. (1979) Genetic polymorphism of human complement C4 and detection of heterozygotes. |
32. |
Giles CM et al. (1976) Rga (Rodgers) and the HLA region: linkage and associations. |
33. |
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. |
35. |
None (1991) The complete exon-intron structure of a human complement component C4A gene. DNA sequences, polymorphism, and linkage to the 21-hydroxylase gene. |
36. |
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. |
37. |
Welch TR et al. (1990) Uniparental isodisomy 6 associated with deficiency of the fourth component of complement. |
38. |
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. |
39. |
Yu CY et al. (1986) Structural basis of the polymorphism of human complement components C4A and C4B: gene size, reactivity and antigenicity. |
40. |
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. |
41. |
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. |
42. |
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. |
43. |
White PC et al. (1985) Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man. |
44. |
Robinson MA et al. (1985) Localization of C4 genes within the HLA complex by molecular genotyping. |
45. |
Prentice HL et al. (1986) C4B gene polymorphism detected in a human cosmid clone. |
47. |
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. |
48. |
Carroll MC et al. (1987) Polymorphism and molecular genetics of human C4. |
49. |
Wilton AN et al. (1986) Order of class III genes relative to HLA genes determined by the haplotype method. |
50. |
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. |
51. |
OMIM.ORG article Omim 614380 |