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Aetiology

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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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.

Reference:

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