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.
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Ruddy S et al. (1970) Inherited abnormalities of the complement system in man. |
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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). |
3. |
None (1968) Inherited c'2 deficiency in man: lack of immunochemically detectable c'2 protein in serums from deficient individuals. |
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Böttger EC et al. (1986) Guinea pigs with inherited deficiencies of complement components C2 or C4 have characteristics of immune complex disease. |
5. |
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6. |
Seligmann M et al. (1979) Hereditary C2 deficiency associated with common variable immunodeficiency. |
7. |
Gewurz A et al. () Homozygous C2 deficiency with fulminant lupus erythematosus: severe nephritis via the alternative complement pathway. |
8. |
Callen JP et al. (1987) Subacute cutaneous lupus erythematosus in multiple members of a family with C2 deficiency. |
9. |
Efthimiou J et al. (1986) Heterozygous C2 deficiency associated with angioedema, myasthenia gravis, and systemic lupus erythematosus. |
10. |
Klemperer MR et al. (1966) Hereditary deficiency of the second component of complement (C'2) in man. |
11. |
Wahl R et al. (1979) C2 deficiency and a lupus erythematosus-like illness: family re-evaluation. |
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13. |
None (1967) Inborn errors of the complement system of man. |
14. |
Colten HR et al. (1981) Genetics and biosynthesis of complement proteins. |
15. |
Provost TT et al. (1983) Homozygous C2 deficiency, lupus erythematosus, and anti-Ro (SSA) antibodies. |
16. |
McCarty DJ et al. (1981) Serologic studies in a family with heterozygous C2 deficiency. |
17. |
Belin DC et al. (1980) Familial discoid lupus erythematosus associated with heterozygote C2 deficiency. |
18. |
Riggs JE et al. (1980) Heterozygous C2-deficiency and myasthenia gravis. |
19. |
Mortensen JP et al. (1980) Studies on the C2-deficiency gene in man. |
20. |
Thong YH et al. (1980) Homozygous deficiency of the second component of complement presenting with recurrent bacterial meningitis. |
21. |
Awdeh ZL et al. (1981) Complement-human histocompatibility antigen haplotypes in C2 deficiency. |
22. |
Kim Y et al. (1977) Inherited deficiency of the second component of complement (C2) with membranoproliferative glomerulonephritis. |
23. |
None (1960) Essential hypocomplementemia: report of a case. |
24. |
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. |
25. |
Johnson CA et al. (1992) Molecular heterogeneity of C2 deficiency. |
26. |
Jönsson G et al. (2005) Hereditary C2 deficiency in Sweden: frequent occurrence of invasive infection, atherosclerosis, and rheumatic disease. |
27. |
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. |
28. |
Saevarsdottir S et al. (2007) Mannan-binding lectin may facilitate the clearance of circulating immune complexes--implications from a study on C2-deficient individuals. |
29. |
Hussain A et al. (2007) C2 deficiency primary meningococcal arthritis of the elbow by Neisseria meningitidis serogroup Y in a 12-year old girl. |
30. |
Yuste J et al. (2010) Impaired opsonization with complement and phagocytosis of Streptococcus pyogenes in sera from subjects with inherited C2 deficiency. |
31. |
Hauck F et al. (2011) Complement C2 deficiency disarranging innate and adaptive humoral immune responses in a pediatric patient: treatment with rituximab. |
32. |
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. |
33. |
Miller EC et al. (2012) Overcoming C2 deficiency. |
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None (1986) Primary structure of human complement component C2. Homology to two unrelated protein families. |
35. |
Dunham I et al. (1987) Molecular mapping of the human major histocompatibility complex by pulsed-field gel electrophoresis. |
36. |
Raum D et al. (1979) Mapping of the structural gene for the second component of complement with respect to the human major histocompatibility complex. |
37. |
Bentley DR et al. (1984) Isolation of cDNA clones for human complement component C2. |
38. |
Wetsel RA et al. (1996) Type II human complement C2 deficiency. Allele-specific amino acid substitutions (Ser189 > Phe; Gly444 > Arg) cause impaired C2 secretion. |
39. |
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. |
40. |
Leddy JP et al. (1975) Hereditary complement (C2) deficiency with dermatomyositis. |
41. |
Einstein LP et al. (1975) Biosynthetic defect in monocytes from human beings with genetic deficiency of the second component of complement. |
42. |
Day NK et al. (1975) Hereditary C2 deficiency: Genetic studies and association with the HL-A system. |
43. |
D'Cruz D et al. (1992) Complement factor 2 deficiency: a clinical and serological family study. |
44. |
Mahowald ML et al. (1979) Linkage relationship of C2 deficiency, HLA and glyoxalase I loci. |
45. |
OMIM.ORG article Omim 217000 |