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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...
| Autores principales: | , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Frontiers Media S.A.
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6399394/ https://www.ncbi.nlm.nih.gov/pubmed/30863741 http://dx.doi.org/10.3389/fped.2019.00051 |
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| author | Chinello, Matteo Mauro, Margherita Cantalupo, Gaetano Balter, Rita De Bortoli, Massimiliano Vitale, Virginia Zaccaron, Ada Bonetti, Elisa Gaudino, Rossella Fiorini, Elena Cesaro, Simone |
| author_facet | Chinello, Matteo Mauro, Margherita Cantalupo, Gaetano Balter, Rita De Bortoli, Massimiliano Vitale, Virginia Zaccaron, Ada Bonetti, Elisa Gaudino, Rossella Fiorini, Elena Cesaro, Simone |
| author_sort | Chinello, Matteo |
| collection | PubMed |
| description | 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. |
| format | Online Article Text |
| id | pubmed-6399394 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2019 |
| publisher | Frontiers Media S.A. |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-63993942019-03-12 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 Chinello, Matteo Mauro, Margherita Cantalupo, Gaetano Balter, Rita De Bortoli, Massimiliano Vitale, Virginia Zaccaron, Ada Bonetti, Elisa Gaudino, Rossella Fiorini, Elena Cesaro, Simone Front Pediatr Pediatrics 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. Frontiers Media S.A. 2019-02-26 /pmc/articles/PMC6399394/ /pubmed/30863741 http://dx.doi.org/10.3389/fped.2019.00051 Text en Copyright © 2019 Chinello, Mauro, Cantalupo, Balter, De Bortoli, Vitale, Zaccaron, Bonetti, Gaudino, Fiorini and Cesaro. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
| spellingShingle | Pediatrics 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 |
| 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | 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 |
| topic | Pediatrics |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6399394/ https://www.ncbi.nlm.nih.gov/pubmed/30863741 http://dx.doi.org/10.3389/fped.2019.00051 |
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