Primary biliary cirrhosis: Does X mark the spot?

Carlo Selmi, Pietro Invernizzi, Monica Miozzo, Mauro Podda, M. Eric Gershwin

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)493-499
Number of pages7
JournalAutoimmunity Reviews
Issue number7-8 SPEC.ISS.
Publication statusPublished - Nov 2004


  • Female precominance
  • Monosomy X
  • Primary biliary cirrhosis

ASJC Scopus subject areas

  • Immunology
  • Immunology and Allergy


Dive into the research topics of 'Primary biliary cirrhosis: Does X mark the spot?'. Together they form a unique fingerprint.

Cite this