Komplement C3-Mangel ist eine ausosomal rezessive Erkrankung, die durch Mutationen im Gen C3 gekennzeichnet ist und kann zu verschiedenen immunologischen Störungen führen kann, insbesondere Störungen der Abwehr von bekteriellen Infektionen.
1. |
Botto M et al. (1990) Molecular basis of polymorphisms of human complement component C3. |
2. |
Osofsky SG et al. (1977) Hereditary deficiency of the third component of complement in a child with fever, skin rash, and arthralgias: response to transfusion of whole blood. |
3. |
Grace HJ et al. (1976) A family with partial and total deficiency of complement C3. |
4. |
Botto M et al. (1992) Homozygous hereditary C3 deficiency due to a partial gene deletion. |
5. |
Nilsson UR et al. (1992) Hereditary dysfunction of the third component of complement associated with a systemic lupus erythematosus-like syndrome and meningococcal meningitis. |
6. |
Borzy MS et al. (1988) Inherited C3 deficiency with recurrent infections and glomerulonephritis. |
7. |
Alper CA et al. (1972) Homozygous deficiency of C3 in a patient with repeated infections. |
8. |
Pussell BA et al. (1980) Complement deficiency and nephritis. A report of a family. |
9. |
Berger M et al. (1983) Circulating immune complexes and glomerulonephritis in a patient with congenital absence of the third component of complement. |
10. |
Sano Y et al. (1981) Hereditary deficiency of the third component of complement in two sisters with systemic lupus erythematosus-like symptoms. |
11. |
McLean RH et al. (1980) Partial lipodystrophy and familial C3 deficiency. |
12. |
McLean RH et al. (1980) Familial partial deficiency of the third component of complement (C3) and the hypocomplementemic cutaneous vasculitis syndrome. |
13. |
Tsukamoto H et al. (2005) Molecular analysis of a novel hereditary C3 deficiency with systemic lupus erythematosus. |
14. |
S Reis E et al. (2006) Clinical aspects and molecular basis of primary deficiencies of complement component C3 and its regulatory proteins factor I and factor H. |
15. |
OMIM.ORG article Omim 613779 |