The most common form of C6 deficiency is characterised by undetectable levels of C6. Subtotal deficiency of C6(C6SD) is characterised by 1%-2% of the normal serum antigenic levels of C6. Subtotal deficiency of C6 has also been seen in association with subtotal C7 deficiency.
Alternative names
Complement component 6 deficiency
Classification
- Defects of the classical complement cascade proteins
Inheritance
Autosomal recessive
OMIM
+217050 Complement component 6 deficiency
Cross references
Phenotypically related immunodeficiencies
IDR factfile for C5 deficiency
IDR factfile for C7 deficiency
IDR factfile for C8 alfa-polypeptide deficiency
IDR factfile for C8 beta-polypeptide deficiency
Incidence
Incidence is not known.