Comprehensive newborn screening for severe combined immunodeficiency, X-linked agammaglobulinemia, and spinal muscular atrophy: the Chinese experience
This study represents the first large-scale screening in mainland China using a TREC/KREC/SMN1 multiplex assay, providing valuable epidemiological data. Our findings suggest that this multiplex assay is an effective screening method for SCID, XLA, and SMA, potentially supporting the universal implementation of NBS programs across China.
Authors
- Rulai Yang (ORCID: https://orcid.org/0000-0003-1464-2226)
- Xiaolei Huang (ORCID: https://orcid.org/0000-0002-2211-4813)
- Rui Xiao (ORCID: https://orcid.org/0000-0002-6313-4757)
- Zhigang Gao (ORCID: https://orcid.org/0000-0002-2280-4953)
- Chi Chen (ORCID: https://orcid.org/0000-0001-9703-604X)
- Chao Zhang (ORCID: https://orcid.org/0000-0002-7863-0737)
- Xin Yang (ORCID: https://orcid.org/0000-0003-3274-9449)
- Feng Wang (ORCID: https://orcid.org/0000-0002-3158-5545)
- Dingwen Wu
Institutions
- Children's Hospital of Zhejiang University (CN)
Publication Details
- Journal
- World Journal of Pediatrics
- Published
- 2024-11-05
- DOI
- https://doi.org/10.1007/s12519-024-00846-7
- Citations
- 7
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.68
Funders
- National Key Research and Development Program of China