Complement component C4 deficiency is characterized by low plasma complement C4 levels and the ensuing dysfunction of the complement-dependent immune defense system. The disorder is caused either by impaired production or enhance degradation of the complement component C4.
1. |
Rosenfeld SI et al. (1969) Structural polymorphism of the fourth component of human complement. |
2. |
Brade V et al. (1977) Biosynthesis of pro-C3, a precursor of the third component of complement. |
3. |
Porter RR et al. (1978) The biochemistry of complement. |
4. |
O'Neill GJ et al. (1978) Chido and Rodgers blood groups: relationship to C4 and HLA. |
5. |
None (1976) The S region of the mouse major histocompatibility complex (H-2): genetic variation and functional role in complement system. |
6. |
Hobart MJ et al. (1976) Allotypes of complement components in man. |
7. |
Krönke M et al. (1977) Linkage of guinea pig Bf and C4 TO THE GPLA. |
8. |
Schaller JG et al. () Severe systemic lupus erythematosus with nephritis in a boy with deficiency of the fourth component of complement. |
9. |
Lachmann PJ et al. (1975) Identification of Ss protein as murine C4. |
10. |
Curman B et al. (1975) H-2 linked Ss protein is C4 component of complement. |
11. |
Fasano MB et al. (1992) A unique recombination event resulting in a C4A*Q0,C4B*Q0 double null haplotype. |
13. |
Eikelenboom P et al. (1988) Complement C4 phenotypes in dementia of the Alzheimer type. |
14. |
Welch TR et al. (1985) C4 uremic variant: an acquired C4 allotype. |
15. |
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. |
16. |
Ellman L et al. (1970) Genetically controlled total deficiency of the fourth component of complement in the guinea pig. |
17. |
Petersen GB et al. (1979) Genetic studies of complement C4 in man. |
18. |
Wank R et al. (1984) Rare variant of complement C4 is seen in high frequency in patients with primary glomerulonephritis. |
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Fontaine M et al. (1980) A common antigenic determinant on human C4b and C3b. |
20. |
Roos MH et al. (1982) A molecular basis for the two locus model of human complement component C4. |
21. |
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. |
22. |
Carroll MC et al. () A molecular map of the human major histocompatibility complex class III region linking complement genes C4, C2 and factor B. |
23. |
Carroll MC et al. (1983) Cloning of a human complement component C4 gene. |
24. |
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. |
25. |
None (1984) A new genetic variant for Chido. |
26. |
Rittner C et al. (1981) On the significance of C2, C4, and factor B polymorphisms in disease. |
27. |
Pollack MS et al. (1980) HLA typing of cultured amniotic cells for the prenatal diagnosis of complement C4 deficiency. |
28. |
Lhotta K et al. (1996) Complement C4 phenotypes in patients with end-stage renal disease. |
29. |
Szalai C et al. (2002) Association of polymorphisms and allelic combinations in the tumour necrosis factor-alpha-complement MHC region with coronary artery disease. |
30. |
Hall RE et al. (1978) Genetic defect in biosynthesis of the precursor form of the fourth component of complement. |
31. |
Yammani RD et al. (2014) C4 Deficiency is a predisposing factor for Streptococcus pneumoniae-induced autoantibody production. |
32. |
Awdeh ZL et al. (1980) Inherited structural polymorphism of the fourth component of human complement. |
33. |
Boteva L et al. (2012) Genetically determined partial complement C4 deficiency states are not independent risk factors for SLE in UK and Spanish populations. |
34. |
O'Neill GJ et al. (1978) Two HLA-linked loci controlling the fourth component of human complement. |
35. |
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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None (1991) The complete exon-intron structure of a human complement component C4A gene. DNA sequences, polymorphism, and linkage to the 21-hydroxylase gene. |
37. |
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. |
38. |
Welch TR et al. (1990) Uniparental isodisomy 6 associated with deficiency of the fourth component of complement. |
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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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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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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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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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Prentice HL et al. (1986) C4B gene polymorphism detected in a human cosmid clone. |
45. |
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. |
46. |
Carroll MC et al. (1987) Polymorphism and molecular genetics of human C4. |
47. |
Mascart-Lemone F et al. (1983) Genetic deficiency of C4 presenting with recurrent infections and a SLE-like disease. Genetic and immunologic studies. |
49. |
Awdeh ZL et al. (1981) Genetic analysis of C4 deficiency. |
50. |
Barba G et al. (1993) Genetic basis of human complement C4A deficiency. Detection of a point mutation leading to nonexpression. |
51. |
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. |
52. |
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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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. |
54. |
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. |
55. |
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. |
56. |
O'Neill GJ et al. (1978) Chido and Rodgers blood groups are distinct antigenic components of human complement C4. |
57. |
Ochs HD et al. (1977) Linkage between the gene (or genes) controlling synthesis of the fourth component of complement and the major histocompatibility complex. |
58. |
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). |
59. |
Cunningham-Rundles C et al. (1977) Are HLA and Chido related antigenic groups? |
60. |
Cunningham-Rundles C et al. (1977) Chemical studies on the Chido antigen. |
61. |
Olaisen B et al. (1979) Human complement C4 locus is duplicated on some chromosomes. |
62. |
Cream JJ et al. (1979) Genetic basis of acquired C4 deficiency. |