Patients with C7 deficiency have markedly diminished total hemolytic complement activity and little if any C7 in their serum. Serum bactericidal activity is markedly reduced and is responsible for the increased risk of neiserrial infections in C7-deficient patients. In the second type of C7 deficiency, the quantity of C7 is diminished and the protein exhibits an altered isoelectric point. C7 deficiency has been in association with subtotal deficiency of C6.
Alternative names
C7 deficiency
Complement component 7 deficiency
Classification
- Defects of the classical complement cascade proteins
Inheritance
Autosomal recessive
OMIM
+217070 Complement component 7 deficiency
Cross references
Phenotypically related immunodeficiencies
IDR factfile for C5 deficiency
IDR factfile for C6 deficiency
IDR factfile for C8 alfa-polypeptide deficiency
IDR factfile for C8 beta-polypeptide deficiency
Incidence
Incidence is not known.