Aire-deficient mice develop hematopoetic irregularities and marginal zone B-cell lymphoma

Blood. 2006 Sep 15;108(6):1941-8. doi: 10.1182/blood-2006-04-019679. Epub 2006 May 18.

Abstract

Autoimmune polyendocrine syndrome type I (APS I) is an inherited recessive disorder with a progressive immunological destruction of many tissues including the adrenal cortex, the parathyroid glands, and the gonads. APS I is caused by mutations in the AIRE gene (autoimmune regulator), expressed in cells of the thymus and spleen, suggesting a role in central and peripheral tolerance. Aire(-/-) mice replicate the autoimmune features of APS I patients with the presence of multiple autoantibodies and lymphocytic infiltrates in various tissues, but young mice appear clinically healthy. We here report the investigation of 15- to 24-month-old Aire(-/-) mice. We did not observe any endocrinological abnormalities, nor did sera from these mice recognize known APS I autoantigens. Interestingly, however, there was a high frequency of marginal zone B-cell lymphoma in Aire(-/-) mice and liver infiltrates of B cells, suggesting chronic antigen exposure and exaggerated activation. Furthermore, increased numbers of monocytes in blood were identified as well as augmented numbers of metallophilic macrophages in the spleen. We propose that Aire, in addition to its function in the thymus, also has a peripheral regulatory role by controlling the development of antigen-presenting cells (APCs) and marginal zone B-cell activation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • AIRE Protein
  • Animals
  • Antigen-Presenting Cells / immunology
  • B-Lymphocytes / immunology
  • Female
  • Hematopoiesis / genetics*
  • Humans
  • Liver / immunology
  • Liver / pathology
  • Lymphocyte Activation
  • Lymphoma, B-Cell / genetics*
  • Lymphoma, B-Cell / immunology
  • Lymphoma, B-Cell / pathology*
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Polyendocrinopathies, Autoimmune / genetics
  • Polyendocrinopathies, Autoimmune / immunology
  • Polyendocrinopathies, Autoimmune / pathology
  • Transcription Factors / deficiency*
  • Transcription Factors / genetics
  • Transcription Factors / immunology

Substances

  • Transcription Factors