Cargando…
Type I interferonopathies in pediatric rheumatology
Defective regulation of type I interferon response is associated with severe inflammatory phenotypes and autoimmunity. Type I interferonopathies are a clinically heterogenic group of Mendelian diseases with a constitutive activation of this pathway that might present as atypical, severe, early onset...
Autores principales: | , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4893274/ https://www.ncbi.nlm.nih.gov/pubmed/27260006 http://dx.doi.org/10.1186/s12969-016-0094-4 |
_version_ | 1782435525610700800 |
---|---|
author | Volpi, Stefano Picco, Paolo Caorsi, Roberta Candotti, Fabio Gattorno, Marco |
author_facet | Volpi, Stefano Picco, Paolo Caorsi, Roberta Candotti, Fabio Gattorno, Marco |
author_sort | Volpi, Stefano |
collection | PubMed |
description | Defective regulation of type I interferon response is associated with severe inflammatory phenotypes and autoimmunity. Type I interferonopathies are a clinically heterogenic group of Mendelian diseases with a constitutive activation of this pathway that might present as atypical, severe, early onset rheumatic diseases. Skin vasculopathy with chilblains and livedo reticularis, interstitial lung disease, and panniculitis are common. Recent studies have implicated abnormal responses to nucleic acid stimuli or defective regulation of downstream effector molecules in disease pathogenesis. As observed for IL1-β and autoinflammatory diseases, knowledge of the defects responsible for type I interferonopathies will likely promote the development of targeted therapy. |
format | Online Article Text |
id | pubmed-4893274 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-48932742016-06-05 Type I interferonopathies in pediatric rheumatology Volpi, Stefano Picco, Paolo Caorsi, Roberta Candotti, Fabio Gattorno, Marco Pediatr Rheumatol Online J Review Defective regulation of type I interferon response is associated with severe inflammatory phenotypes and autoimmunity. Type I interferonopathies are a clinically heterogenic group of Mendelian diseases with a constitutive activation of this pathway that might present as atypical, severe, early onset rheumatic diseases. Skin vasculopathy with chilblains and livedo reticularis, interstitial lung disease, and panniculitis are common. Recent studies have implicated abnormal responses to nucleic acid stimuli or defective regulation of downstream effector molecules in disease pathogenesis. As observed for IL1-β and autoinflammatory diseases, knowledge of the defects responsible for type I interferonopathies will likely promote the development of targeted therapy. BioMed Central 2016-06-04 /pmc/articles/PMC4893274/ /pubmed/27260006 http://dx.doi.org/10.1186/s12969-016-0094-4 Text en © Volpi et al. 2016 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 | Review Volpi, Stefano Picco, Paolo Caorsi, Roberta Candotti, Fabio Gattorno, Marco Type I interferonopathies in pediatric rheumatology |
title | Type I interferonopathies in pediatric rheumatology |
title_full | Type I interferonopathies in pediatric rheumatology |
title_fullStr | Type I interferonopathies in pediatric rheumatology |
title_full_unstemmed | Type I interferonopathies in pediatric rheumatology |
title_short | Type I interferonopathies in pediatric rheumatology |
title_sort | type i interferonopathies in pediatric rheumatology |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4893274/ https://www.ncbi.nlm.nih.gov/pubmed/27260006 http://dx.doi.org/10.1186/s12969-016-0094-4 |
work_keys_str_mv | AT volpistefano typeiinterferonopathiesinpediatricrheumatology AT piccopaolo typeiinterferonopathiesinpediatricrheumatology AT caorsiroberta typeiinterferonopathiesinpediatricrheumatology AT candottifabio typeiinterferonopathiesinpediatricrheumatology AT gattornomarco typeiinterferonopathiesinpediatricrheumatology |