Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Komplement C3-Mangel

Gliederung

Erbliche Complementstörungen
CR1-Mangel
Complementfactor-Properdin-Mangel
Complementfaktor I-Mangel
Complementfaktor-D-Mangel
Frühe Komplementdefekte
Hereditäres Angioödem
Komplement C3-Mangel
C3
Komplement C4-Mangel
Terminale Komplementdefekte
Thrombotische Mikroangiopathien

Referenzen:

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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