Clinical features in patients with severe Alpha-1 antitrypsin deficiency due to rare genotypes

Clinical features in patients with severe Alpha-1 antitrypsin deficiency due to rare genotypes

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 n...

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Main Authors: Ilaria Ferrarotti, Davide Piloni, Asia Filosa, Stefania Ottaviani, Valentina Barzon, Alice Maria Balderacchi, Luciano Corda, Christine Seebacher, Sara Magni, Francesca Mariani, Paolo Baderna, Paola Confalonieri, Leonardo Iannacci, Silvia Mancinelli, Paola Putignano, Carlo Albera, Giulia Maria Stella, Maria Cristina Monti, Angelo Guido Corsico
Format: Article
Language:English
Published: Taylor & Francis 2025-12-01
Series:Pulmonology
Subjects:
Alpha-1-antitrypsin
SERPINA1
rare mutations
orphan disease
lung function
Online Access:https://www.tandfonline.com/doi/10.1080/25310429.2024.2429911
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https://www.tandfonline.com/doi/10.1080/25310429.2024.2429911

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