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

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, wh...

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Bibliographic Details
Published in:Respiratory medicine case reports 2021-01, Vol.33, p.101476, Article 101476
Main Authors: Kubala, Stephanie A., Do, Huy M., Ferré, Elise M.N., Schrump, David S., Olivier, Kenneth N., Walls, Jeffrey G., Lionakis, Michail S., Folio, Les R.
Format: Article
Language:English
Subjects:
AIRE
APECED
APS-1
Autoimmune pneumonitis
Bronchiectasis
Bronchopleural fistula
Case Report
Immunomodulation
Omental flap repair
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Summary: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.
ISSN:2213-0071
2213-0071
DOI:10.1016/j.rmcr.2021.101476