Génétique du déficit en C1 inhibiteur

Abstract

C1 esterase inhibitor deficiency is an uncommon disorder characterized by recurrent episodes of angioedema without urticaria, abdominal pain attacks, and life-threatening upper airway obstruction. C1 inhibitor is a serine protease inhibitor that inactivates several different proteases in the complement, contact, coagulation, and fibrinolytic systems. Diagnosis requires careful medical and family history and the measurement of antigenic and functional C1 inhibitor and C4 levels. Inherited C1 inhibitor deficiency is usually transmitted as an autosomal dominant trait and detected during the first or second decades of life. More than 200 mutations have been described (deletion, missense mutations, splice site mutations, stop codon mutations).