Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Complement C8 deficiency

Complement component 8 deficiency is an autosomal recessive disorder caused by mutations in one of the subunits alpha or beta. Clinically the disorder is characterized by recurrent Neisseria infections predominantly after 10 years of age.

Classification

We distinguish type 1 caused by mutations of the alpha subunit, and type 2 caused by mutations of the beta subunit. The two types are indistinguishable clinically. There is no disease associated yet with mutations of the gamma subunit.

Epidemiology

C8 deficiency has a frequency of about 1/50000 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
Complement C8 deficiency
C8G
Complement C8 deficiency type 1
C8A
Complement C8 deficiency type 2
C8B
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.

Kojima T et al. (1998) Genetic basis of human complement C8 alpha-gamma deficiency.

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2.

Saucedo L et al. (1995) Delineation of additional genetic bases for C8 beta deficiency. Prevalence of null alleles and predominance of C-->T transition in their genesis.

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3.

Kaufmann T et al. (1993) Genetic basis of human complement C8 beta deficiency.

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4.

Ross SC et al. (1984) Complement deficiency states and infection: epidemiology, pathogenesis and consequences of neisserial and other infections in an immune deficiency.

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5.

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

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6.

Petersen BH et al. (1976) Human deficiency of the eighth component of complement. The requirement of C8 for serum Neisseria gonorrhoeae bactericidal activity.

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7.

Jasin HE et al. (1977) Absence of the eighth component of complement in association with systemic lupus erythematosus-like disease.

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8.

Tedesco F et al. (1990) Two distinct abnormalities in patients with C8 alpha-gamma deficiency. Low level of C8 beta chain and presence of dysfunctional C8 alpha-gamma subunit.

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9.

Matthews N et al. (1980) Recurrent meningococcal infections associated with a functional deficiency of the C8 component of human complement.

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10.

Tedesco F et al. (1983) Two types of dysfunctional eighth component of complement (C8) molecules in C8 deficiency in man. Reconstitution of normal C8 from the mixture of two abnormal C8 molecules.

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11.

Pickering RJ et al. (1982) Identification of the alpha-gamma subunit of the eighth component of complement (C8) in a patient with systemic lupus erythematosus and absent C8 activity: patients and family studies.

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12.

Raum D et al. (1979) Genetic control of the eighth component of complement.

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13.

Tanaka S et al. (1991) Gene responsible for deficient activity of the beta subunit of C8, the eighth component of complement, is located on mouse chromosome 4.

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14.

Wulffraat NM et al. (1994) Deficiency of the beta subunit of the eighth component of complement presenting as arthritis and exanthem.

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Update: Sept. 26, 2018