Pure Red Cell Aplasia (PRCA) and Cerebellar Hypoplasia as Atypical Features of Polyglandular Autoimmune Syndrome Type I (APS-1): Two Sisters With the Same AIRE Mutation but Different Phenotypes

The polyglandular autoimmune syndrome type I is a rare hereditary autosomal recessive disease. We describe a child with the classic triad of the disease and her sister with pure red cell aplasia and cerebellar hypoplasia. The latter received two haematopoietic stem cell transplantations, complicated...

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Bibliographic Details
Published in:Front Pediatr
Main Authors: Chinello, Matteo, Mauro, Margherita, Cantalupo, Gaetano, Balter, Rita, De Bortoli, Massimiliano, Vitale, Virginia, Zaccaron, Ada, Bonetti, Elisa, Gaudino, Rossella, Fiorini, Elena, Cesaro, Simone
Format: Artigo
Language:Inglês
Published: Frontiers Media S.A. 2019
Subjects:
Pediatrics
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6399394/
https://ncbi.nlm.nih.gov/pubmed/30863741
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2019.00051
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