Whole Genome Sequencing in 25 Families with Suspected Inborn Errors of Immunity: Diagnostic Yield and Clinical Relevance of Genome-wide Analysis
WGS facilitated the robust identification of causative genetic variants, including complex structural changes. These results suggest that employing WGS in patients suspected of IEIs could provide additional diagnostic yield.
Authors
- Jong Kwon Lee (ORCID: https://orcid.org/0000-0002-6230-1242)
- Areum Shin (ORCID: https://orcid.org/0000-0003-3341-0447)
- Ja‐Hyun Jang (ORCID: https://orcid.org/0000-0003-0516-4947)
- Doo Ri Kim (ORCID: https://orcid.org/0000-0001-5233-4043)
- Yae‐Jean Kim (ORCID: https://orcid.org/0000-0002-8367-3424)
- Eun‐Suk Kang (ORCID: https://orcid.org/0000-0001-6386-6520)
- Jong‐Won Kim (ORCID: https://orcid.org/0000-0002-0708-9242)
- Jong-Ho Park (ORCID: https://orcid.org/0000-0001-5883-8322)
- Young‐Gon Kim (ORCID: https://orcid.org/0000-0001-6840-6830)
Institutions
- Samsung Medical Center (KR)
- Seoul National University Bundang Hospital (KR)
Publication Details
- Journal
- Journal of Clinical Immunology
- Published
- 2025-11-23
- DOI
- https://doi.org/10.1007/s10875-025-01947-2
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00