Aetiology
Hereditary C1 esterase inhibitor deficiency is due to a defective gene on chromosome 11. Two types of hereditary C1 esterase inhibitor deficiency have been described:
- type I is characterized by low antigenic and functional levels of C1 esterase inhibitor (85% of cases)
- type II is characterized by normal or increased antigenic levels of C1 esterase inhibitor with low levels of functionally active protein (15% of cases)
Acquired C1 esterase inhibitor deficiency is an autoimmune disease which may be associated with systemic lupus erythematosus.
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