Reliable genetic diagnosis of NCF1 (p47phox)-deficient chronic granulomatous disease using high-throughput sequencing
With this method, reanalysis of existing sequence data may provide genetic diagnosis to NCF1-CGD patients. This technique may be modified for other diagnostically relevant pseudogenes.
Authors
- Joie Davis
- Kimberly R. Marshall‐Batty
- Amy P. Hsu (ORCID: https://orcid.org/0000-0001-6841-2122)
- Harry L. Malech (ORCID: https://orcid.org/0000-0001-5874-5775)
- Douglas B. Kuhns (ORCID: https://orcid.org/0000-0002-9971-0760)
- Danielle Fink (ORCID: https://orcid.org/0000-0002-7502-7385)
- Justin Lack (ORCID: https://orcid.org/0000-0003-0584-4010)
- Steven M. Holland (ORCID: https://orcid.org/0000-0003-3207-5464)
- Thomas Pepper (ORCID: https://orcid.org/0000-0001-7871-1337)
- Christa S. Zerbe (ORCID: https://orcid.org/0000-0003-4219-0503)
- Eric Karlins (ORCID: https://orcid.org/0000-0002-7541-393X)
- John I. Gallin (ORCID: https://orcid.org/0000-0001-7081-7620)
- Debra Long Priel
- Karen Lau
Institutions
- Leidos (United States) (US)
- National Institute of Allergy and Infectious Diseases (US)
- University of Maryland, College Park (US)
Publication Details
- Journal
- Frontiers in Immunology
- Published
- 2025-08-18
- DOI
- https://doi.org/10.3389/fimmu.2025.1640496
- Primary Topic
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- U.S. Department of Health and Human Services
- Division of Intramural Research, National Institute of Allergy and Infectious Diseases
- National Institutes of Health
- National Cancer Institute
- National Institute of Allergy and Infectious Diseases
- NHLBI Division of Intramural Research