Evidence map›Paper›PMID 39453496›Full record

ArticleJournal of clinical immunology2024

A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity.

Hirofumi Shibata, Daisuke Nakajima, Ryo Konno, Atsushi Hijikata, Motoko Higashiguchi, Hiroshi Nihira, Saeko Shimodera, Takayuki Miyamoto, Masahiko Nishitani-Isa, Eitaro Hiejima and 19 more

Abstract read
In one paragraph

Article in Journal of clinical immunology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

6 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Observational
  5. Review
  6. 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

29 authors.

Hirofumi Shibata *Department of Pediatrics, Kyoto University Graduate School of Medicine, 54 Shogoin-Kawahara-Cho, Sakyo-Ku, Kyoto, 606-8507, Japan.
Daisuke Nakajima *Department of Applied Genomics, Kazusa DNA Research Institute, 2-5-23 Kazusa-Kamatari, Kisarazu, 292-0818, Japan.
Ryo KonnoDepartment of Applied Genomics, Kazusa DNA Research Institute, 2-5-23 Kazusa-Kamatari, Kisarazu, 292-0818, Japan.
Atsushi HijikataSchool of Life Sciences, Tokyo University of Pharmacy and Life Sciences, Tokyo, Japan.
Motoko HigashiguchiDepartment of Pediatrics, Kyoto University Graduate School of Medicine, 54 Shogoin-Kawahara-Cho, Sakyo-Ku, Kyoto, 606-8507, Japan.
Hiroshi NihiraDepartment of Pediatrics, Kyoto University Graduate School of Medicine, 54 Shogoin-Kawahara-Cho, Sakyo-Ku, Kyoto, 606-8507, Japan.
Saeko ShimoderaDepartment of Pediatrics, Kyoto University Graduate School of Medicine, 54 Shogoin-Kawahara-Cho, Sakyo-Ku, Kyoto, 606-8507, Japan.
Takayuki MiyamotoDepartment of Pediatrics, Kyoto University Graduate School of Medicine, 54 Shogoin-Kawahara-Cho, Sakyo-Ku, Kyoto, 606-8507, Japan.
Masahiko Nishitani-IsaDepartment of Pediatrics, Kyoto University Graduate School of Medicine, 54 Shogoin-Kawahara-Cho, Sakyo-Ku, Kyoto, 606-8507, Japan.
Eitaro HiejimaDepartment of Pediatrics, Kyoto University Graduate School of Medicine, 54 Shogoin-Kawahara-Cho, Sakyo-Ku, Kyoto, 606-8507, Japan.
Kazushi IzawaDepartment of Pediatrics, Kyoto University Graduate School of Medicine, 54 Shogoin-Kawahara-Cho, Sakyo-Ku, Kyoto, 606-8507, Japan.
Junko TakitaDepartment of Pediatrics, Kyoto University Graduate School of Medicine, 54 Shogoin-Kawahara-Cho, Sakyo-Ku, Kyoto, 606-8507, Japan.
Toshio HeikeDepartment of Pediatrics, Kyoto University Graduate School of Medicine, 54 Shogoin-Kawahara-Cho, Sakyo-Ku, Kyoto, 606-8507, Japan.
Ken OkamuraDepartment of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, Japan.
Hidenori OhnishiDepartment of Pediatrics, Gifu University Graduate School of Medicine, Gifu, Japan.
Masataka IshimuraDepartment of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Satoshi OkadaDepartment of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.
Motoi YamashitaDepartment of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
Tomohiro MorioDepartment of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
Hirokazu KaneganeDepartment of Child Health and Development, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
Kohsuke ImaiDepartment of Pediatrics, National Defense Medical College, Tokorozawa, Japan.
Yasuko NakamuraDepartment of Pediatrics, National Defense Medical College, Tokorozawa, Japan.
Shigeaki NonoyamaDepartment of Pediatrics, National Defense Medical College, Tokorozawa, Japan.
Toru UchiyamaDepartment of Human Genetics, National Center for Child Health and Development, Tokyo, Japan.
Masafumi OnoderaGene & Cell Therapy Promotion Center, National Center for Child Health and Development, Tokyo, Japan.
Ryuta NishikomoriDepartment of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan.
Osamu OharaDepartment of Applied Genomics, Kazusa DNA Research Institute, 2-5-23 Kazusa-Kamatari, Kisarazu, 292-0818, Japan.
Yusuke KawashimaDepartment of Applied Genomics, Kazusa DNA Research Institute, 2-5-23 Kazusa-Kamatari, Kisarazu, 292-0818, Japan. ykawashi@kazusa.or.jp.ORCID http://orcid.org/0000-0002-9779-8199
Takahiro YasumiDepartment of Pediatrics, Kyoto University Graduate School of Medicine, 54 Shogoin-Kawahara-Cho, Sakyo-Ku, Kyoto, 606-8507, Japan. yasumi@kuhp.kyoto-u.ac.jp.ORCID http://orcid.org/0000-0003-3257-5071

Funding

Japan Agency for Medical Research and Development JP24ek0109586Japanese Ministry of Health, Labor, and Welfare 23809798Japan Society for the Promotion of Science 19K17328Japan Society for the Promotion of Science 21K07795
6 · The paper itself

Abstract

purposeNewborn screening using dried blood spot (DBS) samples for the targeted measurement of metabolites and nucleic acids has made a substantial contribution to public healthcare by facilitating the detection of neonates with genetic disorders. Here, we investigated the applicability of non-targeted quantitative proteomics analysis to newborn screening for inborn errors of immunity (IEIs).

methodsDBS samples from 40 healthy newborns and eight healthy adults were subjected to non-targeted proteomics analysis using liquid chromatography-mass spectrometry after removal of the hydrophilic fraction. Subsequently, DBS samples from 43 IEI patients were analyzed to determine whether patients can be identified by reduced expression of disease-associated proteins.

resultsDBS protein profiling allowed monitoring of levels of proteins encoded by 2912 genes, including 1110 listed in the Online Mendelian Inheritance in Man database, in healthy newborn samples, and was useful in identifying patients with IEIs by detecting reduced levels of disease causative proteins and their interacting proteins, as well as cell-phenotypical alterations.

conclusionOur results indicate that non-targeted quantitative protein profiling of DBS samples can be used to identify patients with IEIs and develop a novel newborn screening platform for genetic disorders.

Indexed as

Dried Blood Spot TestingNeonatal ScreeningProteomicsAdultChromatography, LiquidFemaleHumansInfant, NewbornMaleProteomeProteomeDried blood spotNewborn screeningNon-targeted proteomics

Identifiers

PMID39453496
PMCPMC11511704

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

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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 Socratic graph.