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Novel insight into Chronic Inflammatory Demyelinating Polineuropathy in APECED syndrome: molecular mechanisms and clinical implications in children

Autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) is a rare primary immunodeficiency disorder typically caused by homozygous AIRE gene mutation. It is characterized by the association of multiple autoimmune diseases, with a classical triad including chronic mucocutaneous candid...

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Autores principales: Valenzise, Mariella, Aversa, Tommaso, Salzano, Giuseppina, Zirilli, Giuseppina, De Luca, Filippo, Su, Maureen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5347821/
https://www.ncbi.nlm.nih.gov/pubmed/28257655
http://dx.doi.org/10.1186/s13052-017-0331-6
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author Valenzise, Mariella
Aversa, Tommaso
Salzano, Giuseppina
Zirilli, Giuseppina
De Luca, Filippo
Su, Maureen
author_facet Valenzise, Mariella
Aversa, Tommaso
Salzano, Giuseppina
Zirilli, Giuseppina
De Luca, Filippo
Su, Maureen
author_sort Valenzise, Mariella
collection PubMed
description Autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) is a rare primary immunodeficiency disorder typically caused by homozygous AIRE gene mutation. It is characterized by the association of multiple autoimmune diseases, with a classical triad including chronic mucocutaneous candidiasis, hypoparathyroidism and adrenocortical failure. Its clinical spectrum has significantly enlarged in the last years with the apparence of new entities. One of these novel manifestations is the chronic inflammatory demyelinating polineuropathy (CIDP), that is characterized by involvement of peripheral nervous system, with nerve demyelination, progressive muscular weakness of both arms and legs and sensory loss. The identification of myelin protein zero as an important autoantigen (Ag) in CIDP may suggest the development of Ag-based therapies, such as Ag-specific DNA vaccination or infusion of Ag-coupled cells.
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spelling pubmed-53478212017-03-14 Novel insight into Chronic Inflammatory Demyelinating Polineuropathy in APECED syndrome: molecular mechanisms and clinical implications in children Valenzise, Mariella Aversa, Tommaso Salzano, Giuseppina Zirilli, Giuseppina De Luca, Filippo Su, Maureen Ital J Pediatr Commentary Autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) is a rare primary immunodeficiency disorder typically caused by homozygous AIRE gene mutation. It is characterized by the association of multiple autoimmune diseases, with a classical triad including chronic mucocutaneous candidiasis, hypoparathyroidism and adrenocortical failure. Its clinical spectrum has significantly enlarged in the last years with the apparence of new entities. One of these novel manifestations is the chronic inflammatory demyelinating polineuropathy (CIDP), that is characterized by involvement of peripheral nervous system, with nerve demyelination, progressive muscular weakness of both arms and legs and sensory loss. The identification of myelin protein zero as an important autoantigen (Ag) in CIDP may suggest the development of Ag-based therapies, such as Ag-specific DNA vaccination or infusion of Ag-coupled cells. BioMed Central 2017-01-19 /pmc/articles/PMC5347821/ /pubmed/28257655 http://dx.doi.org/10.1186/s13052-017-0331-6 Text en © The Author(s). 2017 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Commentary
Valenzise, Mariella
Aversa, Tommaso
Salzano, Giuseppina
Zirilli, Giuseppina
De Luca, Filippo
Su, Maureen
Novel insight into Chronic Inflammatory Demyelinating Polineuropathy in APECED syndrome: molecular mechanisms and clinical implications in children
title Novel insight into Chronic Inflammatory Demyelinating Polineuropathy in APECED syndrome: molecular mechanisms and clinical implications in children
title_full Novel insight into Chronic Inflammatory Demyelinating Polineuropathy in APECED syndrome: molecular mechanisms and clinical implications in children
title_fullStr Novel insight into Chronic Inflammatory Demyelinating Polineuropathy in APECED syndrome: molecular mechanisms and clinical implications in children
title_full_unstemmed Novel insight into Chronic Inflammatory Demyelinating Polineuropathy in APECED syndrome: molecular mechanisms and clinical implications in children
title_short Novel insight into Chronic Inflammatory Demyelinating Polineuropathy in APECED syndrome: molecular mechanisms and clinical implications in children
title_sort novel insight into chronic inflammatory demyelinating polineuropathy in apeced syndrome: molecular mechanisms and clinical implications in children
topic Commentary
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5347821/
https://www.ncbi.nlm.nih.gov/pubmed/28257655
http://dx.doi.org/10.1186/s13052-017-0331-6
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