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Idiopathic pulmonary fibrosis with benign SFTPC variant and pathogenic MARS1 mutations: can't see the forest for the trees!

Authors :
Castaldo A
Delestrain C
Diesler R
Merveilleux du Vignaux C
Onnee M
Touraine R
Chalabreysse L
Fanen P
Epaud R
Cottin V
De Becdelièvre A
Source :
ERJ open research [ERJ Open Res] 2023 Nov 06; Vol. 9 (6). Date of Electronic Publication: 2023 Nov 06 (Print Publication: 2023).
Publication Year :
2023

Abstract

Even in the absence of liver disease, MARS1 screening should be considered in severe lung fibrosis of young individuals. Interpretation of the genetic variants can evolve with improvement of knowledge (databases, bioinformatic tools) over time. https://bit.ly/45OxF5E.<br />Competing Interests: Conflict of interest: V. Cottin reports grants or contracts from Boehringer Ingelheim, outside the submitted work, consulting fees from AstraZeneca, Boehringer Ingelheim, Celgene/BMS, CSL Behring, Ferrer/United Therapeutics, GSK, Pliant, Pure Tech, RedX, Roche, Sanofi and Shionogi, outside the submitted work, fees for lectures and consulting from Boehringer Ingelheim, Ferrer/United Therapeutics and Roche, outside the submitted work, support for attending meetings from Boehringer Ingelheim, outside the submitted work, participation on a data and safety monitoring board for Galapagos, Galecto and GSK, outside the submitted work, and participation on an adjudication committee for Fibrogen, outside the submitted work. R. Epaud reports consulting fees from AstraZeneca, outside the submitted work, fees for lectures and consulting from AstraZeneca and GSK, fees for lectures from Chiesi, outside the submitted work, and support for attending meetings from AstraZeneca and GSK, outside the submitted work. The remaining authors have no potential conflicts of interest to disclose.<br /> (Copyright ©The authors 2023.)

Details

Language :
English
ISSN :
2312-0541
Volume :
9
Issue :
6
Database :
MEDLINE
Journal :
ERJ open research
Publication Type :
Academic Journal
Accession number :
37936900
Full Text :
https://doi.org/10.1183/23120541.00472-2023