title: Primary biliary cirrhosis: does X mark the spot?
abstract: Primary biliary cirrhosis (PBC) is an autoimmune disease of unknown etiology leading to progressive destruction of intrahepatic bile duct, with cholestasis, cirrhosis, and eventually liver failure. Epidemiological data indicate that environmental factors trigger autoimmunity in genetically susceptible individuals, although no definitive association of PBC with specific genes has been found. Further, no convincing explanation has been provided for the strong female predominance observed in the prevalence of PBC. However, we recently suggested that the enhanced monosomy X in peripheral white blood cells, and particularly in lymphocytes, of affected women might play a role in the induction of PBC. Such observations appear independent from the degree of cholestasis and specific for PBC. In this review we discuss the implications of these findings and their immunological implications.
authors.affiliation: Division of Rheumatology, Allergy and Clinical Immunology, University of California at Davis School of Medicine, TB 192 One Shields Ave., Davis, CA 95616, USA.
authors.forename: Carlo
authors.initials: C
authors.lastname: Selmi
authors.forename: Pietro
authors.initials: P
authors.lastname: Invernizzi
authors.forename: Monica
authors.initials: M
authors.lastname: Miozzo
authors.forename: Mauro
authors.initials: M
authors.lastname: Podda
authors.forename: M Eric
authors.initials: ME
authors.lastname: Gershwin
mesh_terms: D001327:Autoimmune Diseases / Q000209:etiology / Q000235:genetics* / Q000276:immunology; D041321:Chromosomes, Human, X; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008105:Liver Cirrhosis, Biliary / Q000209:etiology / Q000235:genetics* / Q000276:immunology; D009006:Monosomy; D012737:Sex Factors