Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Complement C8 deficiency type 2

>Complement C8 deficiency type 2 is the deficiency of the beta subunit of the protein. Clinically, there is no distinction between type 2 and type 1 (related to alpha subunit). Both types predispose to meningococcal infections.

Systematic

Complement C8 deficiency
C8G
Complement C8 deficiency type 1
Complement C8 deficiency type 2
C8B

References:

1.

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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2.

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

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3.

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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4.

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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5.

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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6.

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

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7.

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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8.

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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9.

OMIM.ORG article

Omim 613789 [^]
Update: April 29, 2019