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

• প্রধান লেখক: Matteo Chinello (লেখক), Margherita Mauro (লেখক), Gaetano Cantalupo (লেখক), Rita Balter (লেখক), Massimiliano De Bortoli (লেখক), Virginia Vitale (লেখক), Ada Zaccaron (লেখক), Elisa Bonetti (লেখক), Rossella Gaudino (লেখক), Elena Fiorini (লেখক), Simone Cesaro (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: Frontiers Media S.A., 2019-02-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: Connect to this object online.

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...