C8 α-polypeptide deficiency

C8 is composed of three polypeptide chains (alfa, beta, and gamma). The three of the C8 genes are expressed in hepatocytes. Two types of C8 deficiency exist, and both result in loss of total hemolytic complement activity. C8beta deficiency is more common in Caucasians and C8alfa-gamma deficiency is more common in African-Americans.

Alternative names

C8 deficiency, type I

C8 alpha-gamma deficiency

C81 deficiency

Classification

  • Defects of the classical complement cascade proteins
    • C8 deficiency

Inheritance

Autosomal recessive

OMIM

+120950 Complement component 8 deficiency, type I

Incidence

Incidence is not known.