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.


Complement C8 deficiency
Complement C8 deficiency type 1
Complement C8 deficiency type 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.


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


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


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.


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.


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


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.


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

Update: Sept. 26, 2018