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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Detalles Bibliográficos
Autores principales: Chinello, Matteo, Mauro, Margherita, Cantalupo, Gaetano, Balter, Rita, De Bortoli, Massimiliano, Vitale, Virginia, Zaccaron, Ada, Bonetti, Elisa, Gaudino, Rossella, Fiorini, Elena, Cesaro, Simone
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6399394/
https://www.ncbi.nlm.nih.gov/pubmed/30863741
http://dx.doi.org/10.3389/fped.2019.00051

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