Primary Biliary Cirrhosis, Primary Sclerosing Cholangitis, and Autoimmune Hepatitis

  • David González-SernaEmail author
  • Martin Kerick
  • Javier Martín
Part of the Rare Diseases of the Immune System book series (RDIS)


Autoimmune liver diseases (AILDs), comprising primary biliary cirrhosis (PBC; also referred to as primary biliary cholangitis), primary sclerosing cholangitis (PSC), and autoimmune hepatitis (AIH), are complex conditions in which both genetic and environmental factors may affect the hepatobiliary system. Until recently, risk HLA haplotypes were the only genetic factor identified in these diseases, which were insufficient to explain most of the disease heritability. Nevertheless, thanks to the development of large-scale AILDs patient cohorts and the implementation of high-throughput methods such as genome-wide association studies (GWAS), a large number of genetic associations have emerged. In this chapter, we will provide an overview of the recent insights into genetic background of AILDs.


Liver disease PBC PSC AIH HLA GWAS T cells NFKB1 SH2B3 


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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • David González-Serna
    • 1
    Email author
  • Martin Kerick
    • 1
  • Javier Martín
    • 1
  1. 1.Instituto de Parasitología y Biomedicina ‘López-Neyra’, IPBLN-CSIC, Parque Tecnológico Ciencias de la SaludGranadaSpain

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