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...

Full description

Saved in:
Bibliographic Details
Published in:Frontiers in pediatrics 2019-02, Vol.7, p.51
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: Article
Language:English
Subjects:
acute disseminated encephalomyelitis (ADEM)
cerebellar hypoplasia
hematopoietic stem cell transplantation (HCT)
Pediatrics
polyglandular autoimmune syndrome type I
pure red cell aplasia (PRCA)
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:2296-2360
2296-2360
DOI:10.3389/fped.2019.00051