Article
Clinical features in patients with severe Alpha-1 antitrypsin deficiency due to rare genotypes.
Pulmonology - 31 Dec 2025
Ferrarotti Ilaria, Piloni Davide, Filosa Asia, Ottaviani Stefania, Barzon Valentina, Balderacchi Alice Maria, Corda Luciano, Seebacher Christine, Magni Sara, Mariani Francesca, Baderna Paolo, Confalonieri Paola, Iannacci Leonardo, Mancinelli Silvia, Putignano Paola, Albera Carlo, Stella Giulia Maria, Monti Maria Cristina, Corsico Angelo Guido
Abstract excerpt
Alpha-1 Antitrypsin Deficiency (AATD) is a co-dominant condition associated with an increased risk of lung and liver disease. Since it is commonly thought that 95% of severe cases of AATD have PI*ZZ genotype, most studies about AATD have been focused on the Z variant. Nevertheless, over 500 single nucleotide variations in the SERPINA1 gene have been identified. We investigated the clinical presentation of...
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