Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Komplement C3-Mangel

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.

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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