title: Intestinal Wegener's granulomatosis in a patient with severe alpha-1-antitrypsin deficiency resulting from a unique combination of two deficiency alleles (PiZ and PiMProcida).
abstract: Alpha-1-antitripsyn neutralizes the tissue damaging effects of proteases. Alpha-1-antitripsyn deficiency manifests with necrotizing vasculitis. Wegener's granulomatosis is a systemic necrotizing vasculitis that uncommonly affects the gut. The molecular genetics of patients with Wegener's granulomatosis of the gastrointestinal tract have never been characterized. A 63-year-old man with emphysema was admitted with a fever of unknown origin. Initially, this fever was linked to ileocolic Crohn's disease and later attributed to antineutrophil cytoplasm antibody-positive systemic vasculitis. Genetic analysis revealed that the alpha-1-antitripsyn deficiency was due to a previously unreported compound heterozygosity for two mutations (PiZ and PiMProcida). Our findings appear to support the concept that severe alpha-1-antitripsyn deficiency is implicated in the pathogenesis of the Crohn's disease-like milder intestinal manifestations belonging to the spectrum of Wegener's granulomatosis.
authors.affiliation: Division of Internal Medicine and Gastroenterology, Modena City Hospital, Italy. a.lonardo@libero.it
authors.forename: Amedeo
authors.initials: A
authors.lastname: Lonardo
authors.forename: Daniela
authors.initials: D
authors.lastname: Medicina
authors.forename: Marco
authors.initials: M
authors.lastname: Leonelli
authors.forename: Alberto
authors.initials: A
authors.lastname: Bagni
authors.forename: Francesco
authors.initials: F
authors.lastname: Callea
mesh_terms: D003092:Colitis / Q000150:complications; D003424:Crohn Disease / Q000150:complications*; D014890:Granulomatosis with Polyangiitis / Q000150:complications*; D006579:Heterozygote; D006801:Humans; D007079:Ileitis / Q000150:complications; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D011656:Pulmonary Emphysema / Q000150:complications; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications / Q000235:genetics*