Mechanisms of C1-inhibitor deficiency

Immunobiology. 2002 Sep;205(4-5):542-51. doi: 10.1078/0171-2985-00153.

Abstract

C1 inhibitor (C1-Inh) is a protease inhibitor of the serpin family. It interacts and forms complexes with several serine proteases although not all these interactions were proved to be relevant in vivo. Based on studies in deficient patients, C1-Inh appears pivotal in regulating the activation of complement classical pathway and of contact system. The best recognized consequence of defective C1-Inh function is predisposition to episodes of self-limited, increased vascular permeability (angioedema) that is restricted to three specific sites, which include the subcutaneous space, the gut and the upper airway. Candidate mediator of angioedema is bradykinin, a potent vasoactive peptide, released upon contact system activation. Mutations in C1-Inh structural gene are the most common cause of C1-Inh deficiency and lead to hereditary angioedema. Recurrent angioedema are also seen in the acquired defect of C1-Inh that is due to autoantibodies against this protein or to an associated disease causing accelerated catabolism of C1-Inh. Apart from the profound deficiency of C1-Inh characteristic of angioedema, it has been suggested that, in specific pathologic settings, C1-Inh levels in the low normal range could still represent a significant functional deficiency. Such conditions, as extensively investigated in sepsis, are of great relevance because they open the possibility of using C1-Inh as therapeutic agent in several different diseases.

Publication types

  • Review

MeSH terms

  • Angioedema / etiology*
  • Animals
  • Autoantibodies
  • Autoimmune Diseases
  • Complement C1 Inactivator Proteins / deficiency*
  • Complement C1 Inactivator Proteins / genetics
  • Complement C1 Inhibitor Protein
  • Complement Pathway, Classical / physiology*
  • Humans
  • Mutation

Substances

  • Autoantibodies
  • Complement C1 Inactivator Proteins
  • Complement C1 Inhibitor Protein