Publications

Authors:

Chinello, Matteo; Mauro, Margherita; Cantalupo, Gaetano; Balter, Rita; De Bortoli, Massimiliano; Vitale, Virginia; Zaccaron, Ada; Bonetti, Elisa; Gaudino, Rossella; Fiorini, Elena; Cesaro, Simone

Title:

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

Year:

2019

Type of item:

Articolo in Rivista

Tipologia ANVUR:

Articolo su rivista

Language:

Inglese

Referee:

No

Name of journal:

FRONTIERS IN PEDIATRICS

ISSN of journal:

2296-2360

N° Volume:

7

Page numbers:

1-7

Keyword:

acute disseminated encephalomyelitis (ADEM); cerebellar hypoplasia; hematopoietic stem cell transplantation (HCT); polyglandular autoimmune syndrome type I; pure red cell aplasia (PRCA)

Short description of contents:

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.

Note:

The page range is based on PDF file available on the journal website

Product ID:

109254

Handle IRIS:

11562/997277

Last Modified:

December 1, 2022

Bibliographic citation:

Chinello, Matteo; Mauro, Margherita; Cantalupo, Gaetano; Balter, Rita; De Bortoli, Massimiliano; Vitale, Virginia; Zaccaron, Ada; Bonetti, Elisa; Gaudino, Rossella; Fiorini, Elena; Cesaro, Simone, 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 «FRONTIERS IN PEDIATRICS» , vol. 7 , 2019 , pp. 1-7

Consulta la scheda completa presente nel repository istituzionale della Ricerca di Ateneo