Autoimmunity Highlights

, Volume 3, Issue 3, pp 127–132

The X-factor in primary biliary cirrhosis: monosomy X and xenobiotics

  • Ilaria Bianchi
  • Ana Lleo
  • Francesca Bernuzzi
  • Lisa Caliari
  • Dan S. Smyk
  • Pietro Invernizzi
Review Article

DOI: 10.1007/s13317-012-0043-2

Cite this article as:
Bianchi, I., Lleo, A., Bernuzzi, F. et al. Autoimmun Highlights (2012) 3: 127. doi:10.1007/s13317-012-0043-2

Abstract

Primary biliary cirrhosis (PBC) is a chronic, cholestatic, autoimmune liver disease characterised by the destruction of small- and medium-sized bile ducts. The serological hallmark of PBC includes antimitochondrial antibodies (AMA). The disease has a striking female predominance, and primarily affects women of middle-age. First-degree relatives, and in particular female relatives, are known to have an increased risk of developing the disease. Several studies have attempted to explain the female predominance of PBC, and autoimmune diseases in general. Two components that are of interest in PBC include monosomy X and xenobiotics. Monosomy X has been noted to be prevalent in the peripheral blood mononuclear cells of PBC patients. Xenobiotics, which are exogenous chemicals not normally found within the body, have been implicated in the modification of, and loss of, tolerance to AMA. Several cosmetics are known to contain these xenobiotics, which is of interest given the information provided in regards to known risk factors for PBC development. This review will focus on X monosomy and xenobiotics, which appear to constitute the X-factor of PBC.

Keywords

Autoimmunity Autoimmune disease Genetics Xenobiotics Monosomy X Risk factor Susceptibility 

Abbreviations

AMA

Antimitochondrial antibodies

ANA

Antinuclear antibodies

PBC

Primary biliary cirrhosis

PDC-E2

Pyruvate dehydrogenase complex

SSc

Systemic sclerosis

UTI

Urinary tract infection

Copyright information

© Springer-Verlag Italia 2012

Authors and Affiliations

  • Ilaria Bianchi
    • 1
  • Ana Lleo
    • 1
  • Francesca Bernuzzi
    • 1
  • Lisa Caliari
    • 1
  • Dan S. Smyk
    • 2
  • Pietro Invernizzi
    • 1
    • 3
  1. 1.Center for Autoimmune Liver DiseasesHumanitas Clinical and Research CenterRozzano (MI)Italy
  2. 2.Institute of Liver Transplantation, Division of Transplantation Immunology and Mucosal BiologyKing’s College London School of Medicine at King’s College HospitalLondonUK
  3. 3.Division of Rheumatology, Allergy and Clinical ImmunologyUniversity of California at DavisDavisUSA