Evidence map›Paper›PMID 40698093›Full record

ArticleFrontiers in immunology2025

Case Report: Preserved umbilical cords underscore family histories of inborn errors of immunity.

Madoka Nishimura, Dan Tomomasa, Rika Suzuki, Futaba Miyaoka, Hirokazu Kanegane

Abstract readCase Reports
In one paragraph

Article in Frontiers in immunology, 2025. 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. 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

5 authors.

Madoka NishimuraDepartment of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan.
Dan TomomasaDepartment of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan.
Rika SuzukiDepartment of Pediatrics, Nara Prefecture General Medical Center, Nara, Japan.
Futaba MiyaokaDepartment of Pediatrics, Kawaguchi Municipal Medical Center, Saitama, Japan.
Hirokazu KaneganeDepartment of Child Health and Development, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A history of susceptibility to infections and a family history of death because of unexplained infections during infancy are helpful in diagnosing inborn errors of immunity (IEIs). However, infections can occur because of various reasons, and determining whether the underlying disease is undoubtedly an IEI is implausible at present. In Japan, preservation of the umbilical cord at birth is customary. Two patients were suspected of having X-linked agammaglobulinemia (XLA); the patients were ultimately diagnosed with XLA based on the history of susceptibility to infections and family histories of deaths of maternal uncles because of infections during infancy. DNA was extracted from umbilical cords that had been preserved for approximately 50 years. The affected children harbored the same

Indexed as

AgammaglobulinemiaGenetic Diseases, X-LinkedUmbilical CordAgammaglobulinaemia Tyrosine KinaseFemaleHumansInfant, NewbornJapanMalePedigreeAgammaglobulinaemia Tyrosine KinaseBruton tyrosine kinasefamily historyinborn errors of immunityumbilical cordX-linked agammaglobulinemia

Identifiers

PMID40698093
PMCPMC12279766

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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.