The phenotypic state of biallelic SERPINA1 Q0 variants in α1-antitrypsin deficiency
The phenotypic state of biallelic SERPINA1 Q0 variants in α1-antitrypsin deficiency

The phenotypic state of biallelic SERPINA1 Q0 variants in α1-antitrypsin deficiency

ERJ Open Res. 2025 Nov 24;11(6):00228-2025. doi: 10.1183/23120541.00228-2025. eCollection 2025 Nov.

ABSTRACT

Biallelic SERPINA1 Q0 variants lead to early-onset emphysema even in nonsmokers, mandating early-life preventive and therapeutic measures. ZZ patients’ lungs on shut-off transcription strategies equating them to “null” variants should also be protected. https://bit.ly/4mIlRL9.

PMID:41293776 | PMC:PMC12643030 | DOI:10.1183/23120541.00228-2025