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Comprehensive Clinical Diagnostic Pipelines Reveal New Variants in Alpha-1 Antitrypsin Deficiency.

American journal of respiratory cell and molecular biology - 1 Sept 2023

Ottaviani Stefania, Bartoli Giulia, Carroll Tomás P, Gangemi Fabrizio, Balderacchi Alice M, Barzon Valentina, Corino Alessandra, Piloni Davide, McElvaney Noel G, Corsico Angelo G, Irving James A, Fra Annamaria, Ferrarotti Ilaria

Abstract excerpt

Alpha-1 antitrypsin deficiency (AATD) is an underdiagnosed disorder associated with mutations in the SERPINA1 gene encoding alpha-1 antitrypsin (AAT). Severe AATD can manifest as pulmonary emphysema and progressive liver disease. Besides the most common pathogenic variants S (E264V) and Z (E342K), many rarer genetic variants of AAT have been found in patients and in the general population. Here we report a panel...

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PMID: 37071847
DOI: 10.1165/rcmb.2022-0470OC

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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