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.

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

Mauro, Margherita;Cantalupo, Gaetano;Zaccaron, Ada;Gaudino, Rossella;Cesaro, Simone
2019

Abstract

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.
acute disseminated encephalomyelitis (ADEM); cerebellar hypoplasia; hematopoietic stem cell transplantation (HCT); polyglandular autoimmune syndrome type I; pure red cell aplasia (PRCA)
File in questo prodotto:
File Dimensione Formato  
Pure Red Cell Aplasia.pdf

accesso aperto

Descrizione: Articolo principale
Tipologia: Altro materiale allegato
Licenza: Creative commons
Dimensione 5.56 MB
Formato Adobe PDF
5.56 MB Adobe PDF Visualizza/Apri

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11562/997277
Citazioni
  • ???jsp.display-item.citation.pmc??? 2
  • Scopus 1
  • ???jsp.display-item.citation.isi??? 2
social impact