Fatal autoimmune pneumonitis requiring bilobectomy and omental flap repair in a patient with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)

Abstract

We present a severe case of progressive autoimmune pneumonitis requiring surgical intervention in a patient with the monogenic syndrome, autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). APECED is caused by loss-of-function mutations in the autoimmune regulator (AIRE) gene, which lead to impaired central immune tolerance and autoimmune organ destruction including pneumonitis, an underrecognized, life-threatening complication. When clinicians evaluate patients with pneumonitis, recurrent mucosal candidiasis, and autoimmunity, APECED should be considered in the differential. Additionally, in patients with established APECED, a chest computed tomography is preferred to identify pneumonitis early on and to promptly initiate lymphocyte-directed immunomodulatory treatment, which can prevent irreversible lung destruction.

Keywords

• APECED
• APS-1
• AIRE
• Autoimmune pneumonitis
• Bronchiectasis
• Bronchopleural fistula