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Lung involvement in monogenic interferonopathies

Monogenic type I interferonopathies are inherited heterogeneous disorders characterised by early onset of systemic and organ specific inflammation, associated with constitutive activation of type I interferons (IFNs). In the last few years, several clinical reports identified the lung as one of the...

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Autores principales: Cazzato, Salvatore, Omenetti, Alessia, Ravaglia, Claudia, Poletti, Venerino
Formato: Online Artículo Texto
Lenguaje:English
Publicado: European Respiratory Society 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9489100/
https://www.ncbi.nlm.nih.gov/pubmed/33328278
http://dx.doi.org/10.1183/16000617.0001-2020
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author Cazzato, Salvatore
Omenetti, Alessia
Ravaglia, Claudia
Poletti, Venerino
author_facet Cazzato, Salvatore
Omenetti, Alessia
Ravaglia, Claudia
Poletti, Venerino
author_sort Cazzato, Salvatore
collection PubMed
description Monogenic type I interferonopathies are inherited heterogeneous disorders characterised by early onset of systemic and organ specific inflammation, associated with constitutive activation of type I interferons (IFNs). In the last few years, several clinical reports identified the lung as one of the key target organs of IFN-mediated inflammation. The major pulmonary patterns described comprise children's interstitial lung diseases (including diffuse alveolar haemorrhages) and pulmonary arterial hypertension but diagnosis may be challenging. Respiratory symptoms may be either mild or absent at disease onset and variably associated with systemic or organ specific inflammation. In addition, associated extrapulmonary clinical features may precede lung function impairment by years, and patients may display severe/endstage lung involvement, although this may be clinically hidden during the long-term disease course. Conversely, a few cases of atypical severe lung involvement at onset have been reported without clinically manifested extrapulmonary signs. Hence, a multidisciplinary approach involving pulmonologists, paediatricians and rheumatologists should always be considered when a monogenic interferonopathy is suspected. Pulmonologists should also be aware of the main pattern of presentation to allow prompt diagnosis and a targeted therapeutic strategy. In this regard, promising therapeutic strategies rely on Janus kinase-1/2 (JAK-1/2) inhibitors blocking the type I IFN-mediated intracellular cascade.
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spelling pubmed-94891002022-11-14 Lung involvement in monogenic interferonopathies Cazzato, Salvatore Omenetti, Alessia Ravaglia, Claudia Poletti, Venerino Eur Respir Rev Series Monogenic type I interferonopathies are inherited heterogeneous disorders characterised by early onset of systemic and organ specific inflammation, associated with constitutive activation of type I interferons (IFNs). In the last few years, several clinical reports identified the lung as one of the key target organs of IFN-mediated inflammation. The major pulmonary patterns described comprise children's interstitial lung diseases (including diffuse alveolar haemorrhages) and pulmonary arterial hypertension but diagnosis may be challenging. Respiratory symptoms may be either mild or absent at disease onset and variably associated with systemic or organ specific inflammation. In addition, associated extrapulmonary clinical features may precede lung function impairment by years, and patients may display severe/endstage lung involvement, although this may be clinically hidden during the long-term disease course. Conversely, a few cases of atypical severe lung involvement at onset have been reported without clinically manifested extrapulmonary signs. Hence, a multidisciplinary approach involving pulmonologists, paediatricians and rheumatologists should always be considered when a monogenic interferonopathy is suspected. Pulmonologists should also be aware of the main pattern of presentation to allow prompt diagnosis and a targeted therapeutic strategy. In this regard, promising therapeutic strategies rely on Janus kinase-1/2 (JAK-1/2) inhibitors blocking the type I IFN-mediated intracellular cascade. European Respiratory Society 2020-12-16 /pmc/articles/PMC9489100/ /pubmed/33328278 http://dx.doi.org/10.1183/16000617.0001-2020 Text en Copyright ©ERS 2020. https://creativecommons.org/licenses/by-nc/4.0/This article is open access and distributed under the terms of the Creative Commons Attribution Non-Commercial Licence 4.0.
spellingShingle Series
Cazzato, Salvatore
Omenetti, Alessia
Ravaglia, Claudia
Poletti, Venerino
Lung involvement in monogenic interferonopathies
title Lung involvement in monogenic interferonopathies
title_full Lung involvement in monogenic interferonopathies
title_fullStr Lung involvement in monogenic interferonopathies
title_full_unstemmed Lung involvement in monogenic interferonopathies
title_short Lung involvement in monogenic interferonopathies
title_sort lung involvement in monogenic interferonopathies
topic Series
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9489100/
https://www.ncbi.nlm.nih.gov/pubmed/33328278
http://dx.doi.org/10.1183/16000617.0001-2020
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