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.
acute disseminated encephalomyelitis (ADEM)
cerebellar hypoplasia
hematopoietic stem cell transplantation (HCT)
polyglandular autoimmune syndrome type I
pure red cell aplasia (PRCA)
Journal
Frontiers in pediatrics
ISSN: 2296-2360
Titre abrégé: Front Pediatr
Pays: Switzerland
ID NLM: 101615492
Informations de publication
Date de publication:
2019
2019
Historique:
received:
07
12
2018
accepted:
07
02
2019
entrez:
14
3
2019
pubmed:
14
3
2019
medline:
14
3
2019
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 30863741
doi: 10.3389/fped.2019.00051
pmc: PMC6399394
doi:
Types de publication
Case Reports
Langues
eng
Pagination
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