Perspectives in newborn screening for SCID in Japan. Case report: newborn screening identified X-linked severe combined immunodeficiency with a novel IL2RG variant

Using NBS, the patient was diagnosed as having X-linked SCID with a novel missense variant of <i>IL2RG</i>. Early diagnosis using NBS tests enables safe hematopoietic stem cell transplantation without complications such as infection. We also found that even SCID with novel variants can be accurately diagnosed using the NBS program. In Japan, the test uptake rate is approximately 80% due to the high number of self-funded screening tests, and it is hoped that the uptake rate will increase in the future.

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Publication Details

Journal
Frontiers in Immunology
Published
2024-11-20
DOI
https://doi.org/10.3389/fimmu.2024.1478411
Primary Topic
Immunodeficiency and Autoimmune Disorders
Type
article
Field-Weighted Citation Impact
0.00

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article

Perspectives in newborn screening for SCID in Japan. Case report: newborn screening identified X-linked severe combined immunodeficiency with a novel IL2RG variant

Hideyuki Terazono, Dan Tomomasa, Tatsuro Nakamura, Hirokazu Kanegane et al.
2 links
Frontiers in Immunology
Immunodeficiency and Autoimmune Disorders
article

Perspectives in newborn screening for SCID in Japan. Case report: newborn screening identified X-linked severe combined immunodeficiency with a novel IL2RG variant

Hideyuki Terazono, Dan Tomomasa, Tatsuro Nakamura, Hirokazu Kanegane, Takuro Nishikawa, Kaoru Oketani, Jun Nagahama, Atsushi Hijikata, S Beppu, Shogo Horikawa, Kazuro Ikawa, Takanari Abematsu, Yasuhiro Okamoto, Aki Nakamura, Shunsuke Nakagawa, Hiroshi Kasabata
article en

Abstract

Using NBS, the patient was diagnosed as having X-linked SCID with a novel missense variant of <i>IL2RG</i>. Early diagnosis using NBS tests enables safe hematopoietic stem cell transplantation without complications such as infection. We also found that even SCID with novel variants can be accurately diagnosed using the NBS program. In Japan, the test uptake rate is approximately 80% due to the high number of self-funded screening tests, and it is hoped that the uptake rate will increase in the future.

Frontiers in ImmunologyVol. 15
Kagoshima University (JP), Hiroshima University (JP), Tokyo Medical and Dental University (JP), Tokyo University of Pharmacy and Life Sciences (JP), Kagoshima Prefectural College (JP), Kagoshima University Hospital (JP), The University of Tokyo (JP)
Ministry of Education, Culture, Sports, Science and Technology
Good health and well-being
Openalex Percentile: Top 73%
Immunodeficiency and Autoimmune Disorders
DOIOpen Access PDFOpenAlex
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