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Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives
Systemic autoinflammatory diseases are a heterogeneous family of disorders characterized by a dysregulation of the innate immune system, in which sterile inflammation primarily develops through antigen-independent hyperactivation of immune pathways. In most cases, they have a strong genetic backgrou...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8232320/ https://www.ncbi.nlm.nih.gov/pubmed/34198614 http://dx.doi.org/10.3390/ijms22126360 |
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author | Di Donato, Giulia d’Angelo, Debora Mariarita Breda, Luciana Chiarelli, Francesco |
author_facet | Di Donato, Giulia d’Angelo, Debora Mariarita Breda, Luciana Chiarelli, Francesco |
author_sort | Di Donato, Giulia |
collection | PubMed |
description | Systemic autoinflammatory diseases are a heterogeneous family of disorders characterized by a dysregulation of the innate immune system, in which sterile inflammation primarily develops through antigen-independent hyperactivation of immune pathways. In most cases, they have a strong genetic background, with mutations in single genes involved in inflammation. Therefore, they can derive from different pathogenic mechanisms at any level, such as dysregulated inflammasome-mediated production of cytokines, intracellular stress, defective regulatory pathways, altered protein folding, enhanced NF-kappaB signalling, ubiquitination disorders, interferon pathway upregulation and complement activation. Since the discover of pathogenic mutations of the pyrin-encoding gene MEFV in Familial Mediterranean Fever, more than 50 monogenic autoinflammatory diseases have been discovered thanks to the advances in genetic sequencing: the advent of new genetic analysis techniques and the discovery of genes involved in autoinflammatory diseases have allowed a better understanding of the underlying innate immunologic pathways and pathogenetic mechanisms, thus opening new perspectives in targeted therapies. Moreover, this field of research has become of great interest, since more than a hundred clinical trials for autoinflammatory diseases are currently active or recently concluded, allowing us to hope for considerable acquisitions for the next few years. General paediatricians need to be aware of the importance of this group of diseases and they should consider autoinflammatory diseases in patients with clinical hallmarks, in order to guide further examinations and refer the patient to a specialist rheumatologist. Here we resume the pathogenesis, clinical aspects and diagnosis of the most important autoinflammatory diseases in children. |
format | Online Article Text |
id | pubmed-8232320 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-82323202021-06-26 Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives Di Donato, Giulia d’Angelo, Debora Mariarita Breda, Luciana Chiarelli, Francesco Int J Mol Sci Review Systemic autoinflammatory diseases are a heterogeneous family of disorders characterized by a dysregulation of the innate immune system, in which sterile inflammation primarily develops through antigen-independent hyperactivation of immune pathways. In most cases, they have a strong genetic background, with mutations in single genes involved in inflammation. Therefore, they can derive from different pathogenic mechanisms at any level, such as dysregulated inflammasome-mediated production of cytokines, intracellular stress, defective regulatory pathways, altered protein folding, enhanced NF-kappaB signalling, ubiquitination disorders, interferon pathway upregulation and complement activation. Since the discover of pathogenic mutations of the pyrin-encoding gene MEFV in Familial Mediterranean Fever, more than 50 monogenic autoinflammatory diseases have been discovered thanks to the advances in genetic sequencing: the advent of new genetic analysis techniques and the discovery of genes involved in autoinflammatory diseases have allowed a better understanding of the underlying innate immunologic pathways and pathogenetic mechanisms, thus opening new perspectives in targeted therapies. Moreover, this field of research has become of great interest, since more than a hundred clinical trials for autoinflammatory diseases are currently active or recently concluded, allowing us to hope for considerable acquisitions for the next few years. General paediatricians need to be aware of the importance of this group of diseases and they should consider autoinflammatory diseases in patients with clinical hallmarks, in order to guide further examinations and refer the patient to a specialist rheumatologist. Here we resume the pathogenesis, clinical aspects and diagnosis of the most important autoinflammatory diseases in children. MDPI 2021-06-14 /pmc/articles/PMC8232320/ /pubmed/34198614 http://dx.doi.org/10.3390/ijms22126360 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Di Donato, Giulia d’Angelo, Debora Mariarita Breda, Luciana Chiarelli, Francesco Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives |
title | Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives |
title_full | Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives |
title_fullStr | Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives |
title_full_unstemmed | Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives |
title_short | Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives |
title_sort | monogenic autoinflammatory diseases: state of the art and future perspectives |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8232320/ https://www.ncbi.nlm.nih.gov/pubmed/34198614 http://dx.doi.org/10.3390/ijms22126360 |
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