Further Support of Autosomal Recessive <i>CSF3</i> ‐Related Severe Congenital Neutropenia
Severe congenital neutropenia (SCN) is a genetically heterogeneous condition. Reaching a molecular diagnosis is important for management, prognostication, and risk assessment. We present the first confirmatory report of a previously proposed SCN due to a homozygous pathogenic loss-of-function variant in CSF3. Our report supports this new gene-disease relationship in humans.
Authors
- F Alkuraya
- Mohammed Almannai (ORCID: https://orcid.org/0000-0001-7098-9879)
- Khadijah Bakur
- Ahmed A. Alhanshani
Institutions
- Alfaisal University (SA)
- King Saud bin Abdulaziz University for Health Sciences (SA)
- King Faisal Specialist Hospital & Research Centre (SA)
- Saudi Heart Association (SA)
- National Guard Health Affairs (SA)
Publication Details
- Journal
- Clinical Genetics
- Published
- 2026-06-25
- DOI
- https://doi.org/10.1111/cge.70207
- Primary Topic
- Blood disorders and treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00