Hemizygous IL2RG Variants Impair IL-2-Induced STAT5 Phosphorylation and Transcriptional Activity Causing X-Linked Severe Combined Immunodeficiency
This study highlights the critical role of functional analysis in clarifying variant pathogenicity and provides a clear example of pathogenicity assessment for <i>IL2RG</i> variants. Integrating genomic and functional data enhance diagnostic precision and informs precise treatment strategies, genetic counseling, prenatal diagnosis, and PGT for X-SCID.
Authors
- Yue‐Qiu Tan (ORCID: https://orcid.org/0000-0002-8359-4654)
- Wu Zhu (ORCID: https://orcid.org/0000-0002-3645-7059)
- Fu-Yan Wang
- Yi Sang (ORCID: https://orcid.org/0000-0001-6534-0741)
- Ning Zhang (ORCID: https://orcid.org/0000-0002-2452-9289)
- Juan Du (ORCID: https://orcid.org/0000-0001-6199-0157)
- Yurong Wang (ORCID: https://orcid.org/0000-0003-3988-2808)
- Wenbin He
- Yan-yan Yu
- Ya-Hui Chen
Institutions
- Central South University (CN)
- Hunan Normal University (CN)
- Hunan Provincial Center for Disease Control and Prevention (CN)
- Reproductive & Genetic Hospital CITIC-Xiangya (CN)
- Hunan Province Chest Hospital (CN)
- Hunan Provincial People's Hospital (CN)
Publication Details
- Journal
- The Application of Clinical Genetics
- Published
- 2025-09-01
- DOI
- https://doi.org/10.2147/tacg.s525027
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Hunan Provincial Science and Technology Department
- Central South University
- National Key Research and Development Program of China