Evidence map›Paper›PMID 40457861›Full record

ArticlePediatrics international : official journal of the Japan Pediatric Society

Centralized rapid genetic diagnosis of combined immunodeficiency in Japan.

Tamaki Kato, Yumi Ogura, Chikako Kamae, Tzu-Wen Yeh, Tsubasa Okano, Junya Take, Kanako Mitsui-Sekinaka, Kunihiko Moriya, Janine Reichenbach, Pandiarajan Vignesh and 8 more

Abstract read
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In one paragraph

Article in Pediatrics international : official journal of the Japan Pediatric Society. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Centralized rapid genetic diagnosis of combined immunodeficiency in Japan.Pediatrics international : official journal of the Japan Pediatric Society
    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

18 authors.

Tamaki KatoDepartment of Pediatrics, National Defense Medical College, Saitama, Japan.ORCID https://orcid.org/0000-0002-0148-2510
Yumi OguraDepartment of Pediatrics, National Defense Medical College, Saitama, Japan.
Chikako KamaeDepartment of Pediatrics, National Defense Medical College, Saitama, Japan.
Tzu-Wen YehDepartment of Pediatrics and Developmental Biology, Institute of Science Tokyo, Tokyo, Japan.
Tsubasa OkanoDepartment of Pediatrics and Developmental Biology, Institute of Science Tokyo, Tokyo, Japan.
Junya TakeDepartment of Pediatrics, National Defense Medical College, Saitama, Japan.
Kanako Mitsui-SekinakaDepartment of Pediatrics, National Defense Medical College, Saitama, Japan.
Kunihiko MoriyaDepartment of Pediatrics, National Defense Medical College, Saitama, Japan.ORCID https://orcid.org/0000-0003-1275-243X
Janine ReichenbachDepartment of Immunology, University Children's Hospital Zurich, Zurich, Switzerland.ORCID https://orcid.org/0000-0002-9008-1312
Pandiarajan VigneshAllergy Immunology Unit, Advanced Pediatrics Center, Postgraduate Institute of Medical Education and Research, Chandigarh, India.ORCID https://orcid.org/0000-0001-8490-5584
Amit RawatAllergy Immunology Unit, Advanced Pediatrics Center, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Surjit SinghAllergy Immunology Unit, Advanced Pediatrics Center, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Masatoshi TakagiDepartment of Child Health and Development, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan.ORCID https://orcid.org/0000-0002-7580-9184
Hirokazu KaneganeDepartment of Child Health and Development, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan.ORCID https://orcid.org/0000-0002-8696-9378
Tomohiro MorioDepartment of Pediatrics and Developmental Biology, Institute of Science Tokyo, Tokyo, Japan.ORCID https://orcid.org/0000-0002-9259-1025
Osamu OharaDepartment of Applied Genomics, Kazusa DNA Research Institute, Chiba, Japan.ORCID https://orcid.org/0000-0002-3328-9571
Kohsuke ImaiDepartment of Pediatrics, National Defense Medical College, Saitama, Japan.ORCID https://orcid.org/0000-0003-2132-8403
Shigeaki NonoyamaDepartment of Pediatrics, National Defense Medical College, Saitama, Japan.ORCID https://orcid.org/0000-0001-9698-366X

Funding

a grant from the Ministry of Education, Culture, Sports, Science and Technology (MEXT) 20288564the Ministry of Health, Labour and Welfare 20316700the Practical Research Project for Rare/Intractable Diseases of AMED 19188706the Practical Research Project for Rare/Intractable Diseases of AMED 20314514the Practical Research Project for Rare/Intractable Diseases of AMED 20314940The Program for Intractable Diseases Research utilizing Disease-specific iPS cells of Japan Agency for Medical Research and Development (AMED) 17935423
6 · The paper itself

Abstract

purposeSevere combined immunodeficiency (SCID) is a pediatric emergency, and rapid genetic diagnosis is necessary for proper patient management, leading to successful stem cell transplantation and gene therapy. Ataxia telangiectasia (AT) requires early diagnosis to prevent infectious diseases and early detection of cancer. We aimed to diagnose patients with SCID/AT as quickly as possible and link them to the best treatments via the primary immunodeficiency database in Japan (PIDJ) network.

methodsFor 111 patients with suspected combined immunodeficiency, including SCID/AT, we analyzed T-cell receptor excision circle (TREC) and sequenced 29 causative genes of SCID, including ATM, by ion semiconductor sequencing using multiplex polymerase chain reaction amplicons. In some cases, DNA extracted from dried blood spots was used for the analysis.

resultsApproximately 70.8% of 0-1-year-old patients and 26.5% of the patients >2 years old with low TREC were diagnosed genetically, including ADA, ATM, IL2RG, IL7R, JAK3, RAG1, RAG2, DCLRE1C, NHEJ1, and LIG4. However, only 6.9% of patients with normal TREC were genetically diagnosed (STIM1 and ATM) in our panel. In Japan, all patients had been genetically diagnosed after infection or other life-threatening conditions, and >80% of patients are linked to appropriate treatment after diagnosis.

conclusionsTarget gene sequencing, including SCID and AT genes, was useful for the diagnosis of patients with combined immunodeficiency with low TREC and to lead them to prompt treatment and better prognosis.

Indexed as

Ataxia TelangiectasiaGenetic TestingSevere Combined ImmunodeficiencyAdolescentChildChild, PreschoolFemaleHumansInfantInfant, NewbornJapanMaleataxia telangiectasiacombined immunodeficiencynext generation sequencersevere combined immunodeficiencyT‐cell receptor excision circle

Identifiers

PMID40457861
PMCPMC12130913

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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.