Risk of lung disease in the PI*SS genotype of alpha-1 antitrypsin: an EARCO research project

Risk of lung disease in the PI*SS genotype of alpha-1 antitrypsin: an EARCO research project

Abstract Background The PI*S variant is one of the most prevalent mutations within alpha-1 antitrypsin deficiency (AATD). The risk of developing AATD-related lung disease in individuals with the PI*SS genotype is poorly defined despite its substantial prevalence. Our study aimed to characterize this...

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Main Authors: Teresa Martín, Catarina Guimarães, Cristina Esquinas, Maria Torres-Duran, Alice M. Turner, Hanan Tanash, Carlota Rodríguez-García, Angelo Corsico, José Luis López-Campos, Eva Bartošovská, Jens-Ulrik Stæhr Jensen, José María Hernández-Pérez, Maria Sucena, Marc Miravitlles
Format: Article
Language:English
Published: BMC 2024-06-01
Series:Respiratory Research
Subjects:
Alpha-1 antitrypsin
Lung disease
Registries
PI*SS
Online Access:https://doi.org/10.1186/s12931-024-02879-y
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