title: Contact system activation in patients with HAE and normal C1 inhibitor function.
abstract: In addition to hereditary angioedema (HAE) with C1 inhibitor (C1INH) deficiency, a type of HAE with dominant inheritance and normal C1INH function (HAE with normal C1INH) has been described. This relates to contact phase activation with exaggerated kinin formation, and mutations in the coagulation factor XII gene have been identified in some affected families, but the cause of the disease has remained elusive in a majority of families. Several triggering factors are responsible for developing kinin forming system, with participation of endothelium and mast cell component. Angioedema conditions meet the accumulation of kinins with failed kinin catabolism.
authors.affiliation: University Joseph Fourier, GREPI/AGIM CNRS FRE 3405, Grenoble, France; French Reference Centre for Angioedema, CREAK, Grenoble, France.
authors.forename: Arije
authors.initials: A
authors.lastname: Ghannam
authors.forename: Federica
authors.initials: F
authors.lastname: Defendi
authors.forename: Delphine
authors.initials: D
authors.lastname: Charignon
authors.forename: Françoise
authors.initials: F
authors.lastname: Csopaki
authors.forename: Bertrand
authors.initials: B
authors.lastname: Favier
authors.forename: Mohammed
authors.initials: M
authors.lastname: Habib
authors.forename: Sven
authors.initials: S
authors.lastname: Cichon
authors.forename: Christian
authors.initials: C
authors.lastname: Drouet
mesh_terms: D054179:Angioedemas, Hereditary / Q000175:diagnosis / Q000209:etiology*; D050718:Complement C1 Inhibitor Protein / Q000378:metabolism*; D004789:Enzyme Activation; D006801:Humans; D007610:Kallikreins / Q000378:metabolism*; D007705:Kinins / Q000378:metabolism*; D063868:Patient Outcome Assessment; D059748:Proteolysis
chemical_list: D050718:Complement C1 Inhibitor Protein; D007705:Kinins; D007610:Kallikreins
keywords: Contact phase; Factor XII; Kallikrein; Kinin forming enzymes; Kininogen