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.

Abstract

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.

• Authors: Matteo Chinello, Margherita Mauro, Gaetano Cantalupo, Rita Balter, Massimiliano De Bortoli, Virginia Vitale, Ada Zaccaron, Elisa Bonetti, Rossella Gaudino, Elena Fiorini, Simone Cesaro
• Journal: Frontiers in pediatrics (Front Pediatr) Vol. 7 Pg. 51 ( 2019) ISSN: 2296-2360 [Print] Switzerland
• PMID: 30863741 (Publication Type: Case Reports)