Sjögren’s Syndrome

  • Laëtitia Le Pottier
  • Kahina Amrouche
  • Amandine Charras
  • Anne Bordron
  • Jacques-Olivier PersEmail author
Part of the Rare Diseases of the Immune System book series (RDIS)


Primary Sjögren’s syndrome (pSS) is a systemic autoimmune disease characterized by sicca symptoms and a broad variety of systemic clinical manifestations. Indeed, even though keratoconjunctivitis sicca, resulting from the involvement of lacrimal glands, and xerostomia, resulting from the involvement of salivary glands, are usually prominent, pSS presents as a multifaceted and systemic condition with a broad variety of clinical manifestations. The spectrum of pSS extends from an organ-specific autoimmune disorder (referred to as an autoimmune exocrinopathy) to a systemic process and in addition to an increased risk of non-Hodgkin’s lymphoma. More than 50 years ago, genetic involvement was suggested in the etiology of pSS. The idea that genetic and epigenetic factors contribute to the etiology of systemic autoimmune diseases such as pSS is supported by familial autoimmunity and poly-autoimmunity. Most of the genes associated with susceptibility to pSS have been identified because the proteins involved have been previously associated with the pathogenesis of pSS or because the genes had already been associated with another autoimmune disease such as SLE or RA. Consequently, in this chapter, we will first focus on the immunopathology of pSS in order to better understand the genetic and epigenetic alterations described in the disease. The last section will be dedicated to genetic alterations in pSS related to lymphoma.


Sjögren’s syndrome Genetics Epigenetics HLA associations BAFF Lymphoma DNA methylation 


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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Laëtitia Le Pottier
    • 1
  • Kahina Amrouche
    • 1
  • Amandine Charras
    • 1
  • Anne Bordron
    • 1
  • Jacques-Olivier Pers
    • 1
    Email author
  1. 1.Univ Brest, UMR1227, Lymphocytes B et AutoimmunitéBrestFrance

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