A Unique Combination of Heterozygous CFTR Gene Variants in a Person with Cystic Fibrosis and Mycobacterium abscessus Infection
This case highlights a unique combination of heterozygous CFTR variants in a person with CF respiratory disease, which may be amendable to CFTR modulation therapy.
Authors
- Cédric Bosteels (ORCID: https://orcid.org/0000-0003-3230-0879)
- Arthur Lemson (ORCID: https://orcid.org/0009-0007-8688-1812)
- Jakko van Ingen (ORCID: https://orcid.org/0000-0002-0581-2003)
- Monique H. Reijers (ORCID: https://orcid.org/0000-0002-4401-5103)
- Wouter Hoefsloot (ORCID: https://orcid.org/0000-0003-1007-1075)
- Dineke Westra (ORCID: https://orcid.org/0000-0002-5567-1704)
Institutions
- Radboud University Nijmegen (NL)
- Ghent University Hospital (BE)
- Radboud University Medical Center (NL)
- Ghent University (BE)
- Radboud Institute for Molecular Life Sciences (NL)
Publication Details
- Journal
- Respiration
- Published
- 2025-03-28
- DOI
- https://doi.org/10.1159/000545552
- Primary Topic
- Cystic Fibrosis Research Advances
- Type
- article
- Field-Weighted Citation Impact
- 0.00