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

AK Shum, J DeVoss, CL Tan, Y Hou… - Science translational …, 2009 - science.org
AK Shum, J DeVoss, CL Tan, Y Hou, K Johannes, CS O'Gorman, KD Jones, EB Sochett…
Science translational medicine, 2009science.org
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 …
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.
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