Large granular lymphocyte leukemia with pure red cell aplasia associated with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: an unfortuitous association?

Int J Immunopathol Pharmacol. 2010 Jul-Sep;23(3):947-9. doi: 10.1177/039463201002300331.

Abstract

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a recessively inherited monogenic disease caused by a mutation in the autoimmune regulator (AIRE) gene. AIRE plays a major role in central (thymic) immune tolerance. In the absence of AIRE, autoimmunity develops that is especially targeted at endocrine tissues. T-cell large granular lymphocyte (T-LGL) leukemia is a monoclonal lymphoproliferative disease characterized by persistent and indolent lymphocytosis. Autoimmune manifestations, such as rheumatoid arthritis or autoimmune cytopenia, are also common. We report the case of a patient with APECED, who presented with pure red cell aplasia associated with T-LGL leukemia. The association of T-LGL leukemia and APECED is very rare and may not be fortuitous. The immunological mechanisms of this association are discussed.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Exons / genetics
  • Female
  • Humans
  • Leukemia, Large Granular Lymphocytic / complications*
  • Leukemia, Large Granular Lymphocytic / immunology
  • Middle Aged
  • Mutation / genetics
  • Polyendocrinopathies, Autoimmune / complications*
  • Polyendocrinopathies, Autoimmune / immunology*
  • Red-Cell Aplasia, Pure / complications*
  • Red-Cell Aplasia, Pure / immunology
  • T-Lymphocytes / immunology