AUTHOR=Chinello Matteo , Mauro Margherita , Cantalupo Gaetano , Balter Rita , De Bortoli Massimiliano , Vitale Virginia , Zaccaron Ada , Bonetti Elisa , Gaudino Rossella , Fiorini Elena , Cesaro Simone 

TITLE=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

JOURNAL=Frontiers in Pediatrics

VOLUME=7

YEAR=2019

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2019.00051

DOI=10.3389/fped.2019.00051

ISSN=2296-2360

ABSTRACT=<p>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 by an acute disseminated encephalomyelitis.</p>