Autoimmune polyendocrine syndrome type 1 (APS-1) as a model for understanding autoimmune polyendocrine syndrome type 2 (APS-2)

J Intern Med. 2009 May;265(5):530-40. doi: 10.1111/j.1365-2796.2009.02091.x.

Abstract

Autoimmune polyendocrine syndromes type 1 and 2 (APS-1 and APS-2) are diverse in regards to their component diseases and immunologic features of pathogenesis. Animal models and human studies highlight the importance of alleles of HLA (human leukocyte antigen)-like molecules determining tissue specific targeting that with the loss of tolerance leads to organ specific autoimmunity. Knowledge of the syndromes and component diseases allows clinicians to recognize and prevent illness prior to morbidity. With the current understanding of the syndromes, a paradigm for diagnosis, screening and treatment can be established. Once genetically susceptible individuals are identified screening for autoantibodies can be performed. Amongst autoantibody positive individuals, monitoring for physiologic decompensation, with a goal of treating prior to morbidity and in some cases mortality, follows. With continued basic and clinical research, therapies aimed at treating the underlying autoimmunity and disease prevention should become possible.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • AIRE Protein
  • Adrenal Insufficiency / immunology
  • Animals
  • Autoantibodies / blood
  • Autoimmunity / genetics
  • Genetic Predisposition to Disease
  • Histocompatibility Antigens Class II / genetics
  • Humans
  • Models, Immunological*
  • Mutation
  • Polyendocrinopathies, Autoimmune / blood
  • Polyendocrinopathies, Autoimmune / diagnosis
  • Polyendocrinopathies, Autoimmune / immunology*
  • Self Tolerance / genetics
  • Syndrome
  • Transcription Factors / genetics

Substances

  • Autoantibodies
  • Histocompatibility Antigens Class II
  • Transcription Factors