Evidence map›Paper›PMID 39635533›Full record

ArticleFrontiers in immunology2024

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

Shiro Beppu, Takuro Nishikawa, Dan Tomomasa, Atsushi Hijikata, Hiroshi Kasabata, Hideyuki Terazono, Kazuro Ikawa, Tatsuro Nakamura, Shogo Horikawa, Jun Nagahama and 6 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in immunology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Article
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

16 authors.

Shiro Beppu *Department of Pediatrics, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, Japan.
Takuro Nishikawa *Department of Pediatrics, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, Japan.
Dan TomomasaDepartment of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
Atsushi HijikataSchool of Life Sciences, Tokyo University of Pharmacy and Life Sciences, Tokyo, Japan.
Hiroshi KasabataDepartment of Clinical Laboratory Medicine, Kagoshima University Hospital, Kagoshima, Japan.
Hideyuki TerazonoDepartment of Clinical Pharmacy and Pharmacology, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, Japan.
Kazuro IkawaDepartment of Clinical Pharmacotherapy, Hiroshima University, Hiroshima, Japan.
Tatsuro NakamuraDepartment of Pediatrics, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, Japan.
Shogo HorikawaDepartment of Pediatrics, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, Japan.
Jun NagahamaDepartment of Pediatrics, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, Japan.
Aki NakamuraDepartment of Pediatrics, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, Japan.
Takanari AbematsuDepartment of Pediatrics, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, Japan.
Shunsuke NakagawaDepartment of Pediatrics, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, Japan.
Kaoru OketaniKagoshima Prefectural Comprehensive Health Centre, Kagoshima, Japan.
Hirokazu Kanegane *Department of Child Health and Development, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
Yasuhiro OkamotoDepartment of Pediatrics, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Newborn screening (NBS) for severe combined immunodeficiency (SCID) has improved the prognosis of SCID. In Japan, NBS testing (measurement of the T-cell receptor excision circles (TREC) and kappa-deleting recombination excision circles (KREC)) was launched in 2017 and has expanded nationwide in recent years. In this study, we report a Japanese patient with X-linked SCID with a novel Case: The patient had no siblings or family history of inborn errors of immunity. He was born at 38 weeks of gestation and weighed 3,072 g. His NBS results revealed TREC 0 copies/10 Conclusion: Using NBS, the patient was diagnosed as having X-linked SCID with a novel missense variant of

Indexed as

Interleukin Receptor Common gamma SubunitNeonatal ScreeningX-Linked Combined Immunodeficiency DiseasesCord Blood Stem Cell TransplantationHumansInfant, NewbornJapanMaleIL2RG protein, humanInterleukin Receptor Common gamma Subunithematopoietic stem cell transplantationIL2RG genenewborn screeningstructural analysisX-linked severe combined immunodeficiency

Identifiers

PMID39635533
PMCPMC11614797

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.