Complement component 2 deficiency
Complement component 2 deficiency
Definition
Complement component 2 deficiency (C2D) is a genetic condition that affects the immune system. Signs and symptoms include recurrent bacterial infections and risk for a variety of autoimmune conditions. Infections can be very serious and are common in early life. They become less frequent during the teen and adult years. The most frequent autoimmune conditions associated with C2D are lupus (10-20%) and vasculitis. C2D is caused by mutations in the C2 gene and is inherited in an autosomal recessive fashion.
Also known as C2 complement deficiency, complement component 2 deficiency, complement deficiency caused by mutation in C2 — per MONDO