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Pediatr Transplant ; 25(6): e14048, 2021 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-34076340

RESUMEN

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.


Asunto(s)
Fallo Hepático Agudo/genética , Fallo Hepático Agudo/cirugía , Trasplante de Hígado , Poliendocrinopatías Autoinmunes/genética , Poliendocrinopatías Autoinmunes/cirugía , Humanos , Lactante , Masculino , Mutación , Factores de Transcripción , Proteína AIRE
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