title: The autoimmune side of hereditary angioedema: insights on the pathogenesis.
abstract: Hereditary angioedema (HAE) is an autosomal dominant disease resulting from the deficiency of C1 inhibitor (C1-INH), a glycosylated serine protease inhibitor that plays a regulatory role in the complement system (CS), the contact system and the intrinsic coagulation cascade. HAE disease severity is highly variable and may be influenced by genetic polymorphisms as well as by other factors, such as gender hormone-mediated effects. In HAE, the potential inadequate clearance of immune-complexes (IC) in the presence of reduced levels of CS components and in turn an excess of IC in the tissues results in inflammatory damage and release of autoantigens that may trigger an autoimmune response. Occasional reports link HAE with autoimmune conditions and only few studies have been conducted on large patient populations with controversial results. Although several immunoregulatory disorders have been documented, the prevalence of defined autoimmune diseases in patients with HAE remains debated. The occurrence of autoimmune conditions in HAE patients may worsen the disease severity enhancing the complexity of the comprehensive care.
authors.affiliation: University of Rome Tor Vergata, Rheumatology, Allergology and Clinical Immunology, Department of "Medicina dei Sistemi", Rome, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Triggianese
authors.affiliation: University of Rome Tor Vergata, Rheumatology, Allergology and Clinical Immunology, Department of "Medicina dei Sistemi", Rome, Italy.
authors.forename: Maria Sole
authors.initials: MS
authors.lastname: Chimenti
authors.affiliation: Division of Allergy and Clinical Immunology, Bnai Zion Medical Center/Technion Faculty of Medicine, Haifa, Israel.
authors.forename: Elias
authors.initials: E
authors.lastname: Toubi
authors.affiliation: University of Rome Tor Vergata, Rheumatology, Allergology and Clinical Immunology, Department of "Medicina dei Sistemi", Rome, Italy.
authors.forename: Eleonora
authors.initials: E
authors.lastname: Ballanti
authors.affiliation: University of Rome Tor Vergata, Rheumatology, Allergology and Clinical Immunology, Department of "Medicina dei Sistemi", Rome, Italy.
authors.forename: Maria Domenica
authors.initials: MD
authors.lastname: Guarino
authors.affiliation: Reumatologia, Dipartimento di Medicina Interna e Specialità Mediche, Sapienza Università di Roma, Rome, Italy.
authors.forename: Carlo
authors.initials: C
authors.lastname: Perricone
authors.affiliation: University of Rome Tor Vergata, Rheumatology, Allergology and Clinical Immunology, Department of "Medicina dei Sistemi", Rome, Italy. Electronic address: roberto.perricone@uniroma2.it.
authors.forename: Roberto
authors.initials: R
authors.lastname: Perricone
mesh_terms: D054179:Angioedemas, Hereditary / Q000276:immunology*; D000936:Antigen-Antibody Complex / Q000276:immunology; D001324:Autoantigens / Q000276:immunology; D001327:Autoimmune Diseases / Q000276:immunology*; D015551:Autoimmunity / Q000276:immunology; D006801:Humans
chemical_list: D000936:Antigen-Antibody Complex; D001324:Autoantigens
keywords: Autoimmunity; C1 inhibitor; Complement system; Hereditary angioedema; Systemic lupus erythematosus