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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Front Pediatr
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: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2019
Fag:
Pediatrics
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6399394/
https://ncbi.nlm.nih.gov/pubmed/30863741
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2019.00051
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker