Printable factfile
C8 is composed of three polypeptide chains (alfa, beta, and gamma), each encoded by distinct genes. The three 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 II
C8 beta deficiency
Complement component 8, beta subunit deficiency
Classification
- Defects of the classical complement cascade proteins
- C8 deficiency
Inheritance
Autosomal recessive
OMIM
+120960 Complement component 8 deficiency, type II
Cross references
Phenotypically related immunodeficiencies
IDR factfile for C5 deficiency
IDR factfile for C6 deficiency
IDR factfile for C7 deficiency
Incidence
Incidence is not known.