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

Respiratory research - 26 Jun 2024

Martín Teresa, Guimarães Catarina, Esquinas Cristina, Torres-Duran Maria, Turner Alice M, Tanash Hanan, Rodríguez-García Carlota, Corsico Angelo, López-Campos José Luis, Bartošovská Eva, Stæhr Jensen Jens-Ulrik, Hernández-Pérez José María, Sucena Maria, Miravitlles Marc

Abstract excerpt

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 genotype and its risk for lung disease and compare it with the PI*ZZ and PI*SZ genotypes using data from the European...

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Identifiers

PMID: 38926693
DOI: 10.1186/s12931-024-02879-y
PMCID: PMC11210092

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