A Hereditary Pulmonary Alveolar Proteinosis Caused by a Novel Hemizygous Variation of the <i>CSF2RA</i> Gene Case Report and Literature Review
We report the first documented case of hereditary PAP caused by the CSF2RA variant NM_000402.4:c.200_204del (p.Asn67SerfsTer8), expanding the genetic spectrum of this disease. Our findings reinforce that CSF2RA-related PAP exhibits phenotypic heterogeneity and confirm whole lung lavage as the cornerstone therapy. This case highlights the importance of genetic testing in diagnosing rare PAP subtypes.
Authors
- Yaru Zhu
- Qiang Chen (ORCID: https://orcid.org/0000-0003-2759-987X)
- Gefei Xiao (ORCID: https://orcid.org/0000-0002-6990-8901)
- Xiaomin Zhu (ORCID: https://orcid.org/0000-0003-1850-8585)
- Sufen Zhang (ORCID: https://orcid.org/0000-0003-4660-3029)
- Hongjun Chen (ORCID: https://orcid.org/0000-0002-0936-2599)
- Jinyang Chen (ORCID: https://orcid.org/0000-0002-8075-9089)
Institutions
- Weihai Maternal and Child Health Hospital (CN)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2025-11-27
- DOI
- https://doi.org/10.1002/mgg3.70158
- Primary Topic
- Neonatal Respiratory Health Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00