AIRE Gene Mutation Presenting at Age 2 Years With Autoimmune Retinopathy and Steroid-Responsive Acute Liver Failure: A Case Report and Literature Review

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare monogenic autosomal recessive disorder caused by mutation in the autoimmune regulator (AIRE) gene. Patients usually are diagnosed at ages between 5 and 15 years when they show 3 or more manifestations, most typically m...

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Bibliographic Details
Main Authors: Hirotaka Sakaguchi, Tatsuki Mizuochi, Masatoshi Haruta, Ryuta Takase, Shigeo Yoshida, Yushiro Yamashita, Ryuta Nishikomori
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-05-01
Series:Frontiers in Immunology
Subjects:
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2021.687280/full