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

• Main Authors: Matteo Chinello (Author), Margherita Mauro (Author), Gaetano Cantalupo (Author), Rita Balter (Author), Massimiliano De Bortoli (Author), Virginia Vitale (Author), Ada Zaccaron (Author), Elisa Bonetti (Author), Rossella Gaudino (Author), Elena Fiorini (Author), Simone Cesaro (Author)
• Format: Book
• Published: Frontiers Media S.A., 2019-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...