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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Front Pediatr
Egile Nagusiak: Chinello, Matteo, Mauro, Margherita, Cantalupo, Gaetano, Balter, Rita, De Bortoli, Massimiliano, Vitale, Virginia, Zaccaron, Ada, Bonetti, Elisa, Gaudino, Rossella, Fiorini, Elena, Cesaro, Simone
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Frontiers Media S.A. 2019
Gaiak:
Pediatrics
Sarrera elektronikoa: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
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