Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Complement C7 deficiency

Complement component C7 deficiency is an autosomal recessive disorder caused by mutations in the C7 gene which may results in various immonological condition such as impaired defense of meningococcal infections.

Epidemiology

C7 deficiency has a frequency of about 1/14000 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
Complement C7 deficiency
C7
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.

Coto E et al. (1991) DNA polymorphisms and linkage relationship of the human complement component C6, C7, and C9 genes.

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2.

Lachmann PJ et al. (1978) Combined genetic deficiency of C6 and C7 in man.

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3.

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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4.

Nishizaka H et al. (1996) Genetic bases of human complement C7 deficiency.

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5.

Fernie BA et al. (1997) Molecular bases of C7 deficiency: three different defects.

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6.

Fernie BA et al. (1998) Complement C7 deficiency: seven further molecular defects and their associated marker haplotypes.

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7.

Schlesinger M et al. (1990) Prevalence of hereditary properdin, C7 and C8 deficiencies in patients with meningococcal infections.

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8.

Lee TJ et al. (1978) Familial deficiency of the seventh component of complement associated with recurrent bacteremic infections due to Neisseria.

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9.

Petersen BH et al. (1979) Neisseria meningitidis and Neisseria gonorrhoeae bacteremia associated with C6, C7, or C8 deficiency.

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10.

Rittner C et al. (1976) Lack of linkage between gene(s) controlling the synthesis of the seventh component of complement and the HLA region on chromosome No. 6 in man.

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11.

Delâge JM et al. (1977) Hereditary C7 deficiency. Diagnosis and HLA studies in a French-Canadian family.

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12.

Boyer JT et al. (1975) Hereditary deficiency of the seventh component of complement.

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13.

Friduss SR et al. (1992) Fatal pyoderma gangrenosum in association with C7 deficiency.

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14.

Nürnberger W et al. (1989) Familial deficiency of the seventh component of complement associated with recurrent meningococcal infections.

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15.

Zimran A et al. (1987) Hereditary complement deficiency in survivors of meningococcal disease: high prevalence of C7/C8 deficiency in Sephardic (Moroccan) Jews.

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16.

Adams EM et al. (1983) Absence of the seventh component of complement in a patient with chronic meningococcemia presenting as vasculitis.

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17.

Clough JD et al. (1980) Familial late complement component (C6, C7) deficiency with chronic meningococcemia.

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18.

Egan LJ et al. (1994) Hereditary deficiency of the seventh component of complement and recurrent meningococcal infection: investigations of an Irish family using a novel haemolytic screening assay for complement activity and C7 M/N allotyping.

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19.

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

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20.

OMIM.ORG article

Omim 610102 [^]
Update: May 9, 2019