Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Complement C6 deficiency

Complement component C6 deficiency is an autosomal recessive disorder caused by mutations in the C6 gene which may results in various immonological condition such as impaired defense of infections and autoimmune phenomena, but often the deficiency is asymptomatic.

Epidemiology

C6 deficiency has a frequency of about 1/40000 in Japan.[Error: Macro 'ref' doesn't exist]

Systematic

Hereditary complement disorders
CR1 deficiency
Complement C2 deficiency
Complement C3 deficiency
Complement C5 deficiency
Complement C6 deficiency
C6
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.

Vogler LB et. al. (1979) Recurrent meningococcal meningitis with absence of the sixth component of complement: an evaluation of underlying immunologic mechanisms.

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2.

Tedesco F et. al. (1981) A lupus-like syndrome in a patient with deficiency of the sixth component of complement.

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3.

Würzner R et. al. (1995) Molecular basis of subtotal complement C6 deficiency. A carboxy-terminally truncated but functionally active C6.

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4.

Hobart MJ et. al. (1993) A physical map of the C6 and C7 complement component gene region on chromosome 5p13.

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5.

Nishizaka H et. al. (1996) Molecular bases for inherited human complement component C6 deficiency in two unrelated individuals.

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6.

Fernie BA et. al. (1996) Molecular bases of combined subtotal deficiencies of C6 and C7: their effects in combination with other C6 and C7 deficiencies.

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7.

Zhu ZB et. al. (1998) Molecular defects leading to human complement component C6 deficiency in an African-American family.

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8.

Hobart MJ et. al. (1998) The molecular basis of C6 deficiency in the western Cape, South Africa.

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9.

Fukumori Y et. al. (1998) Terminal complement component deficiencies in Japan.

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10.

Reinitz E et. al. (1986) Arthritis and antinuclear antibodies (ANA) with inherited deficiency of the sixth component of complement (C6).

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11.

Kernbaum S et. al. (1980) Human deficiency of the sixth component of complement in a patient with meningococcal meningitis and no haemostasis abnormality.

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12.

Ellison RT et. al. (1983) Prevalence of congenital or acquired complement deficiency in patients with sporadic meningocococcal disease.

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13.

Leddy JP et. al. (1974) Hereditary deficiency of the sixth component of complement in man. I. Immunochemical, biologic, and family studies.

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14.

Heusinkveld RS et. al. (1974) Hereditary deficiency of the sixth component of complement in man. II. Studies of hemostasis.

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15.

Raum D et. al. (1980) Genetic polymorphism of serum complement components in the chimpanzee.

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Update: Sept. 26, 2018