title: Systemic vasculitis associated with alphal-antitrypsin deficiency.
abstract: We describe a rare case of systemic vasculitis associated with alpha1-antitrypsin (alpha1-AT) deficiency. Mutational analysis of the alpha1-AT gene in this patient revealed a homozygous alpha1-AT Mnichinan variant. Alpha1-AT possesses broad-spectrum inhibitory activity against many serine proteases, including human neutrophil elastase, to help maintaining the crucial balance between proteases and protease inhibitors. The increase in free protease activity in the context of alpha1-AT deficiency may induce exacerbation of the vasculitis. This serious genetic defect severely affects the balance between a protease and a protease inhibitor at the pathological site.
authors.affiliation: Department of Medicine and Biosystemic Science, Graduate School of Medical Science, Kyushu University, Fukuoka.
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Takii
authors.forename: Hisako
authors.initials: H
authors.lastname: Inoue
authors.forename: Eiji
authors.initials: E
authors.lastname: Karashima
authors.forename: Mitsuteru
authors.initials: M
authors.lastname: Akahoshi
authors.forename: Isao
authors.initials: I
authors.lastname: Furugo
authors.forename: Sachiko
authors.initials: S
authors.lastname: Hattori
authors.forename: Motoko
authors.initials: M
authors.lastname: Yamanaka
authors.forename: Sachiko
authors.initials: S
authors.lastname: Kinoshita
authors.forename: Naotaka
authors.initials: N
authors.lastname: Hamasaki
authors.forename: Kazuya
authors.initials: K
authors.lastname: Shimoda
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Nakashima
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Tsukamoto
authors.forename: Takahiko
authors.initials: T
authors.lastname: Horiuchi
authors.forename: Takeshi
authors.initials: T
authors.lastname: Otsuka
authors.forename: Mine
authors.initials: M
authors.lastname: Harada
mesh_terms: D005260:Female; D006801:Humans; D008875:Middle Aged; D010375:Pedigree; D017422:Sequence Analysis, DNA; D014657:Vasculitis / Q000150:complications* / Q000235:genetics; D000515:alpha 1-Antitrypsin / Q000235:genetics; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications* / Q000235:genetics
chemical_list: D000515:alpha 1-Antitrypsin