Rare genetic mutation triggering acute liver failure in a toddler requiring a liver transplant

Charles B Chen; Nila Mistry Ambani; Andrew Zeft; Reinaldo Garcia-Naviero; Vera Hupertz; Koji Hashimoto; Kadakkal Radhakrishnan

doi:10.1111/petr.14048

Rare genetic mutation triggering acute liver failure in a toddler requiring a liver transplant

Pediatr Transplant. 2021 Sep;25(6):e14048. doi: 10.1111/petr.14048. Epub 2021 Jun 2.

Authors

Charles B Chen¹, Nila Mistry Ambani¹, Andrew Zeft², Reinaldo Garcia-Naviero³, Vera Hupertz¹, Koji Hashimoto⁴, Kadakkal Radhakrishnan¹

Affiliations

¹ Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Cleveland Clinic, Cleveland, OH, USA.
² Center for Pediatric Rheumatology and Immunology, Cleveland Clinic, Cleveland, OH, USA.
³ Department of Pediatric Gastroenterology, Akron Children's Hospital, Akron, OH, USA.
⁴ Department of General Surgery, Cleveland Clinic, Cleveland, OH, USA.

PMID: 34076340
DOI: 10.1111/petr.14048

Abstract

APS-1 is an extremely rare, autosomal recessive condition that often presents with candidiasis, adrenal insufficiency, and hypoparathyroidism. This condition is associated with autoimmune hepatitis in less than 20% of cases, and there have only been a few reports of children with the condition who developed ALF. We present a unique case of an infant with APS-1 who developed ALF and subsequently required liver transplantation.

Keywords: ALF; autoimmunity; hepatitis; immune tolerance; liver transplantation.

Publication types

Case Reports

MeSH terms

AIRE Protein
Humans
Infant
Liver Failure, Acute / genetics*
Liver Failure, Acute / surgery*
Liver Transplantation*
Male
Mutation
Polyendocrinopathies, Autoimmune / genetics*
Polyendocrinopathies, Autoimmune / surgery*
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