PiComplutense (p.Pro393Thr): A novel SERPINA1 variant in Alpha-1 antitrypsin deficiency identified in two siblings
These cases highlight the diagnostic value of extended SERPINA1 sequencing in patients with biochemical-genotypic discordance. Although the most frequent deficient alleles are S and Z, we should think about possible rare variants when discordance exists. There is a need to improve early detection, refine risk assessment and support personalised clinical management.
Authors
- Juan Luis Rodríguez Hermosa (ORCID: https://orcid.org/0000-0003-0552-2484)
- Beatriz Martı́nez-Delgado (ORCID: https://orcid.org/0000-0001-6834-350X)
- Myriam Calle Rubio (ORCID: https://orcid.org/0000-0002-3890-2742)
- S. Ortiz
- Nerea Matamala (ORCID: https://orcid.org/0000-0002-3082-2414)
- Soha Esmaili (ORCID: https://orcid.org/0009-0007-3984-3557)
- Lucia Gómez Martín-Caro
Institutions
- Universidad Complutense de Madrid (ES)
- Universidad Nebrija (ES)
- Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (ES)
- Centro de Investigación Biomédica en Red de Enfermedades Respiratorias (ES)
- Lung Institute (US)
- Instituto de Investigación de Enfermedades Raras (ES)
Publication Details
- Journal
- Respiratory Medicine Case Reports
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.rmcr.2025.102285
- Primary Topic
- Protease and Inhibitor Mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 0.00