Complement component C3 deficiency is an autosomal recessive disorder caused by mutations in the C3 gene which may results in various immonological condition such as impaired defense of bacterial infections.
| 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.
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| 15. |
OMIM.ORG article Omim 613779
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