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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...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
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.
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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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