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Acute Cervical Longitudinally Extensive Transverse Myelitis in a Child With Lipopolysaccharide-Responsive-Beige-Like-Anchor-Protein (LRBA) Deficiency: A New Complication of a Rare Disease
Lipopolysaccharide responsive beige-like anchor protein (LRBA) deficiency is a primary immunodeficiency disorder (PID) that can cause a common variable immunodeficiency (CVID)-like disease. The typical features of the disease are autoimmunity, chronic diarrhea, and hypogammaglobulinemia. Neurologica...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7596261/ https://www.ncbi.nlm.nih.gov/pubmed/33178652 http://dx.doi.org/10.3389/fped.2020.580963 |
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author | Chinello, Matteo Mauro, Margherita Cantalupo, Gaetano Talenti, Giacomo Mariotto, Sara Balter, Rita De Bortoli, Massimiliano Vitale, Virginia Zaccaron, Ada Bonetti, Elisa Di Carlo, Daniela Barzaghi, Federica Cesaro, Simone |
author_facet | Chinello, Matteo Mauro, Margherita Cantalupo, Gaetano Talenti, Giacomo Mariotto, Sara Balter, Rita De Bortoli, Massimiliano Vitale, Virginia Zaccaron, Ada Bonetti, Elisa Di Carlo, Daniela Barzaghi, Federica Cesaro, Simone |
author_sort | Chinello, Matteo |
collection | PubMed |
description | Lipopolysaccharide responsive beige-like anchor protein (LRBA) deficiency is a primary immunodeficiency disorder (PID) that can cause a common variable immunodeficiency (CVID)-like disease. The typical features of the disease are autoimmunity, chronic diarrhea, and hypogammaglobulinemia. Neurological complications are also reported in patients affected by LRBA deficiency. We describe a 7-year old female with an acute cervical longitudinally extensive transverse myelitis (LETM) as a feature of LRBA deficiency. This is the first case of LETM associated with LRBA deficiency described in literature. |
format | Online Article Text |
id | pubmed-7596261 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-75962612020-11-10 Acute Cervical Longitudinally Extensive Transverse Myelitis in a Child With Lipopolysaccharide-Responsive-Beige-Like-Anchor-Protein (LRBA) Deficiency: A New Complication of a Rare Disease Chinello, Matteo Mauro, Margherita Cantalupo, Gaetano Talenti, Giacomo Mariotto, Sara Balter, Rita De Bortoli, Massimiliano Vitale, Virginia Zaccaron, Ada Bonetti, Elisa Di Carlo, Daniela Barzaghi, Federica Cesaro, Simone Front Pediatr Pediatrics Lipopolysaccharide responsive beige-like anchor protein (LRBA) deficiency is a primary immunodeficiency disorder (PID) that can cause a common variable immunodeficiency (CVID)-like disease. The typical features of the disease are autoimmunity, chronic diarrhea, and hypogammaglobulinemia. Neurological complications are also reported in patients affected by LRBA deficiency. We describe a 7-year old female with an acute cervical longitudinally extensive transverse myelitis (LETM) as a feature of LRBA deficiency. This is the first case of LETM associated with LRBA deficiency described in literature. Frontiers Media S.A. 2020-10-16 /pmc/articles/PMC7596261/ /pubmed/33178652 http://dx.doi.org/10.3389/fped.2020.580963 Text en Copyright © 2020 Chinello, Mauro, Cantalupo, Talenti, Mariotto, Balter, De Bortoli, Vitale, Zaccaron, Bonetti, Di Carlo, Barzaghi 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 Talenti, Giacomo Mariotto, Sara Balter, Rita De Bortoli, Massimiliano Vitale, Virginia Zaccaron, Ada Bonetti, Elisa Di Carlo, Daniela Barzaghi, Federica Cesaro, Simone Acute Cervical Longitudinally Extensive Transverse Myelitis in a Child With Lipopolysaccharide-Responsive-Beige-Like-Anchor-Protein (LRBA) Deficiency: A New Complication of a Rare Disease |
title | Acute Cervical Longitudinally Extensive Transverse Myelitis in a Child With Lipopolysaccharide-Responsive-Beige-Like-Anchor-Protein (LRBA) Deficiency: A New Complication of a Rare Disease |
title_full | Acute Cervical Longitudinally Extensive Transverse Myelitis in a Child With Lipopolysaccharide-Responsive-Beige-Like-Anchor-Protein (LRBA) Deficiency: A New Complication of a Rare Disease |
title_fullStr | Acute Cervical Longitudinally Extensive Transverse Myelitis in a Child With Lipopolysaccharide-Responsive-Beige-Like-Anchor-Protein (LRBA) Deficiency: A New Complication of a Rare Disease |
title_full_unstemmed | Acute Cervical Longitudinally Extensive Transverse Myelitis in a Child With Lipopolysaccharide-Responsive-Beige-Like-Anchor-Protein (LRBA) Deficiency: A New Complication of a Rare Disease |
title_short | Acute Cervical Longitudinally Extensive Transverse Myelitis in a Child With Lipopolysaccharide-Responsive-Beige-Like-Anchor-Protein (LRBA) Deficiency: A New Complication of a Rare Disease |
title_sort | acute cervical longitudinally extensive transverse myelitis in a child with lipopolysaccharide-responsive-beige-like-anchor-protein (lrba) deficiency: a new complication of a rare disease |
topic | Pediatrics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7596261/ https://www.ncbi.nlm.nih.gov/pubmed/33178652 http://dx.doi.org/10.3389/fped.2020.580963 |
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