Epigenetics, autoimmunity and hematologic malignancies: A comprehensive review

Owen Ngalamika, Yiqun Zhang, Heng Yin, Ming Zhao, M. Eric Gershwin, Qianjin Lu

Research output: Contribution to journalArticlepeer-review

56 Scopus citations


The relationships between immunological dysfunction, loss of tolerance and hematologic malignancies have been a focus of attention in attempts to understand the appearance of a higher degree of autoimmune disease and lymphoma in children with congenital immunodeficiency. Although multiple hypotheses have been offered, it is clear that stochastic processes play an important role in the immunopathology of these issues. In particular, accumulating evidence is defining a role of epigenetic mechanisms as being critical in this continuous spectrum between autoimmunity and lymphoma. In this review, we focus attention predominantly on the relationships between T helper 17 (Th17) and T regulatory populations that alter local microenvironments and ultimately the expression or transcription factors involved in cell activation and differentiation. Abnormal expression in any of the molecules involved in Th17 and/or Treg development alter immune homeostasis and in genetically susceptible hosts may lead to the appearance of autoimmunity and/or lymphoma. These observations have clinical significance in explaining the discordance of autoimmunity in identical twins. They are also particularly important in the relationships between primary immune deficiency syndromes, immune dysregulation and an increased risk of lymphoma. Indeed, defining the factors that determine epigenetic alterations and their relationships to immune homeostasis will be a challenge greater or even equal to the human genome project.

Original languageEnglish (US)
Pages (from-to)451-465
Number of pages15
JournalJournal of Autoimmunity
Issue number4
StatePublished - Dec 2012


  • Autoimmune disease
  • Epigenetics
  • Hematological malignancy
  • Th17 cells
  • Treg cells

ASJC Scopus subject areas

  • Immunology
  • Immunology and Allergy


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