Identification of an autoantigen demonstrates a link between interstitial lung disease and a defect in central tolerance

Sci Transl Med. 2009 Dec 2;1(9):9ra20. doi: 10.1126/scitranslmed.3000284.

Abstract

Interstitial lung disease (ILD) is a common manifestation of systemic autoimmunity characterized by progressive inflammation or scarring of the lungs. Patients who develop these complications can exhibit significantly impaired gas exchange that may result in hypoxemia, pulmonary hypertension, and even death. Unfortunately, little is understood about how these diseases arise, including the role of specific defects in immune tolerance. Another key question is whether autoimmune responses targeting the lung parenchyma are critical to ILD pathogenesis, including that of isolated idiopathic forms. We show that a specific defect in central tolerance brought about by mutations in the autoimmune regulator gene (Aire) leads to an autoreactive T cell response to a lung antigen named vomeromodulin and the development of ILD. We found that a human patient and mice with defects in Aire develop similar lung pathology, demonstrating that the AIRE-deficient model of autoimmunity is a suitable translational system in which to unravel fundamental mechanisms of ILD pathogenesis.

Publication types

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

MeSH terms

  • AIRE Protein
  • Adaptation, Physiological*
  • Animals
  • Autoantigens / analysis*
  • Lung Diseases, Interstitial / immunology*
  • Lung Diseases, Interstitial / physiopathology
  • Mice
  • Transcription Factors / genetics
  • Transcription Factors / physiology

Substances

  • Autoantigens
  • Transcription Factors

Associated data

  • RefSeq/NM_001025574