Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Complement C3 deficiency

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.

Systematic

Hereditary complement disorders
CR1 deficiency
Complement C2 deficiency
Complement C3 deficiency
C3
Complement C5 deficiency
Complement C6 deficiency
Complement C7 deficiency
Complement C8 deficiency
Complement C9 deficiency
Complement component C4 deficiency
Complement factor D deficiency
Complement factor I deficiency
Early pathway complement deficiencies
Hereditary Angioedema
Properdin deficiency, X-linked
Terminal pathway complement deficiencies
Thrombotic microangiopathies

References:

1.

Botto M et al. (1990) Molecular basis of polymorphisms of human complement component C3.

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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.

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3.

Grace HJ et al. (1976) A family with partial and total deficiency of complement C3.

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4.

Botto M et al. (1992) Homozygous hereditary C3 deficiency due to a partial gene deletion.

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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.

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6.

Borzy MS et al. (1988) Inherited C3 deficiency with recurrent infections and glomerulonephritis.

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7.

Alper CA et al. (1972) Homozygous deficiency of C3 in a patient with repeated infections.

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8.

Pussell BA et al. (1980) Complement deficiency and nephritis. A report of a family.

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9.

Berger M et al. (1983) Circulating immune complexes and glomerulonephritis in a patient with congenital absence of the third component of complement.

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10.

Sano Y et al. (1981) Hereditary deficiency of the third component of complement in two sisters with systemic lupus erythematosus-like symptoms.

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11.

McLean RH et al. (1980) Partial lipodystrophy and familial C3 deficiency.

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12.

McLean RH et al. (1980) Familial partial deficiency of the third component of complement (C3) and the hypocomplementemic cutaneous vasculitis syndrome.

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13.

Tsukamoto H et al. (2005) Molecular analysis of a novel hereditary C3 deficiency with systemic lupus erythematosus.

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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 [^]
Update: April 29, 2019