complement component 2 deficiency
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.
MONDO:0000015
classic complement early component deficiency
is_a
MONDO:0015699
immunodeficiency due to a classical component pathway complement deficiency
is_a
C2 complement deficiency
exact
C2D
related
complement component 2 deficiency
exact
complement deficiency caused by mutation in C2
exact