X-linked severe combined immunodeficiency with Down syndrome identified by newborn screening
This is the first reported case of Down syndrome complicated by severe combined immunodeficiency successfully treated with hematopoietic stem cell transplantation. While Down syndrome can lead to low TREC levels in newborn screening, which typically recover spontaneously, careful follow-up is indispensable for potential risk.
Authors
- Hirokazu Kanegane (ORCID: https://orcid.org/0000-0002-8696-9378)
- Satoshi Okada (ORCID: https://orcid.org/0000-0002-4622-5657)
- Yusuke Imanaka (ORCID: https://orcid.org/0000-0002-7261-7080)
- Takaki Asano (ORCID: https://orcid.org/0000-0003-1424-2433)
- Yoko Mizoguchi (ORCID: https://orcid.org/0000-0003-3686-9915)
- Nobuki Nishioka
- Fumiaki Sakura
- Takahiro Kamiya (ORCID: https://orcid.org/0000-0002-8124-6234)
- Kosuke Noma (ORCID: https://orcid.org/0009-0009-9415-9744)
Institutions
- Hiroshima University (JP)
- NTT Medical Center (JP)
- Tokyo Institute of Psychiatry (JP)
- National Center For Child Health and Development (JP)
- Kure Medical Center (JP)
Publication Details
- Journal
- Journal of Human Immunity
- Published
- 2025-06-28
- DOI
- https://doi.org/10.70962/jhi.20250057
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Japan Agency for Medical Research and Development
- Japan Society for the Promotion of Science