A high‐throughput <scp>TREC‐</scp> and <scp>KREC</scp> ‐based newborn screening for severe inborn errors of immunity
This assay would allow the establishment of qPCR-based NBS in unfamiliar laboratories leading to the early diagnosis of SCID and BCD.
Authors
- Kazumi Sawakami
- Haruka Hiroki
- Toru Uchiyama (ORCID: https://orcid.org/0000-0001-9610-0900)
- Tomohiro Morio (ORCID: https://orcid.org/0000-0002-9259-1025)
- Norio Shimizu (ORCID: https://orcid.org/0000-0002-6225-233X)
- Akifumi Endo (ORCID: https://orcid.org/0000-0002-8788-4042)
- Iori Sato (ORCID: https://orcid.org/0000-0001-7077-6646)
- Hidenori Ohnishi (ORCID: https://orcid.org/0000-0002-2890-0305)
- Kunihiko Moriya (ORCID: https://orcid.org/0000-0003-1275-243X)
- Kohsuke Imai (ORCID: https://orcid.org/0000-0003-2132-8403)
- F. Hirose
- Yasuhiro Tomaru
Institutions
- Tokyo Medical and Dental University (JP)
- Sumitomo Precision Products (Japan) (JP)
- National Center For Child Health and Development (JP)
- Gifu University (JP)
- National Defense Medical College (JP)
- The University of Tokyo (JP)
- Shimadzu (Japan) (JP)
Publication Details
- Journal
- Pediatrics International
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1111/ped.15872
- Citations
- 2
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.59
Funders
- Japan Agency for Medical Research and Development
- Ministry of Health, Labour and Welfare
- Japan Society for the Promotion of Science