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PBC Genetics

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  • First Online:
Encyclopedia of Medical Immunology

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Synonyms

Chronic nonsuppurative destructive cholangitis; Primary biliary cirrhosis

Primary Biliary Cirrhosis

Primary biliary cirrhosis (PBC) is a chronic cholestatic liver disease characterized by progressive destruction of small/medium intrahepatic bile ducts which leads to cirrhosis and finally to liver transplantation or death (Invernizzi et al. 2010). PBC is a rare condition being present in about 1 of 1,000 women over the age of 40, and ursodeoxycholic acid is the only approved therapy. Liver transplantation is also a possible therapeutic option in patients with end-stage liver disease. The presence of specific serum and cell-mediated responses against defined self-antigens, the increased risk of developing PBC or another autoimmune disorder among family members, and a striking female predominance (female to male ratio up to 10:1) indicated the autoimmune pathogenesis of PBC (Invernizzi et al. 2008). The current hypothesis on its etiopathogenesis implies that the disease results...

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References

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Authors and Affiliations

  1. Liver Unit and Center for Autoimmune Liver Diseases, Humanitas Clinical and Research Center, 20089, Rozzano, MI, Italy

    Pietro Invernizzi

Authors
  1. Pietro Invernizzi
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Correspondence to Pietro Invernizzi .

Editor information

Editors and Affiliations

  1. Department of Biochemistry and Molecular Biology, Monash University, Clayton, Victoria, Australia

    Ian R. Mackay

  2. Center for Autoimmune Disease Research, Department of Molecular Microbiology and Immunology, Department of Pathology, Johns Hopkins University, Baltimore, MD, USA

    Noel R. Rose

  3. The Feinstein Institute for Medical Research, Manhasset, NY, USA

    Betty Diamond

  4. The Feinstein Institute for Medical Research, Manhasset, NY, USA

    Anne Davidson

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© 2014 Springer Science+Business Media New York

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Invernizzi, P. (2014). PBC Genetics. In: Mackay, I.R., Rose, N.R., Diamond, B., Davidson, A. (eds) Encyclopedia of Medical Immunology. Springer, New York, NY. https://doi.org/10.1007/978-0-387-84828-0_516

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  • DOI: https://doi.org/10.1007/978-0-387-84828-0_516

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-0-387-84827-3

  • Online ISBN: 978-0-387-84828-0

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