Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy-Associated Hepatitis

Authors

Zhubene Mesbah, Carl T. Hayden Veterans' Administration Medical Center, Phoenix, AZ.
Nishant Tiwari, Phoenix Children's Hospital, Phoenix, AZ.Follow
Keith Sacco, Phoenix Children's Hospital, Phoenix, AZ.

Document Type

Article

Abstract

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an inborn error of immunity, resulting from variation in the autoimmune regulator gene (). Pathogenic variants in the gene result in autoimmunity typically involving endocrine organs with nonendocrine organs less commonly affected. Hepatitis associated with APECED has emerged as a potentially fatal complication with higher reported prevalence in the Americas. We describe a case of a 3-year-old boy presenting with hepatitis from APECED without classical clinical diagnostic criteria. This case highlights the importance of APECED in the evaluation of hepatitis given response to immunomodulator treatment and risk of fulminate liver failure.

Publication Date

12-1-2023

Publication Title

ACG case reports journal

ISSN

2326-3253

Volume

10

Issue

12

First Page

e01235

PubMed ID

38111786

Digital Object Identifier (DOI)

10.14309/crj.0000000000001235

Recommended Citation

Mesbah, Zhubene; Tiwari, Nishant; and Sacco, Keith, "Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy-Associated Hepatitis" (2023). Neuropathology. 3.
https://scholar.barrowneuro.org/neuropathology/3