Evidence map›Paper›PMID 40264496›Full record

ArticleRespirology case reports2025

GATA2 Deficiency With Early-Onset and Progressive Interstitial Lung Disease.

Yuriko Sugiura, Takahiro Ando, Hirokazu Urushiyama, Akihisa Mitani, Goh Tanaka, Kenichi Kashimada, Tomohiro Morio, Hidenori Kage

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Respirology case reports, 2025. 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. Review
  2. Review
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

8 authors.

Yuriko SugiuraDepartment of Respiratory Medicine The University of Tokyo Tokyo Japan.
Takahiro AndoDepartment of Respiratory Medicine The University of Tokyo Tokyo Japan.
Hirokazu UrushiyamaDepartment of Respiratory Medicine The University of Tokyo Tokyo Japan.
Akihisa MitaniDepartment of Respiratory Medicine The University of Tokyo Tokyo Japan.
Goh TanakaDepartment of Respiratory Medicine The University of Tokyo Tokyo Japan.
Kenichi KashimadaDepartment of Pediatrics and Developmental Biology Institute of Science Tokyo Tokyo Japan.
Tomohiro MorioDepartment of Pediatrics and Developmental Biology Institute of Science Tokyo Tokyo Japan.
Hidenori KageDepartment of Respiratory Medicine The University of Tokyo Tokyo Japan.ORCID https://orcid.org/0000-0003-3658-4442

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

GATA2 deficiency is a rare disease caused by germline heterozygous variants. This mutation is known to cause a decrease in haematopoietic stem cells and a decrease in monocytes, dendritic cells, NK cells, and B cells, leading to various diseases such as haematological, infectious, respiratory, and neurological diseases. The most common respiratory diseases are pulmonary alveolar proteinosis, recurrent respiratory tract infections, and pulmonary hypertension. A patient had recurrent infections since her childhood, and in her 20s developed sensorineural hearing loss, interstitial lung disease, and was diagnosed with mental retardation. Bronchoscopy did not reveal the cause of interstitial lung disease. Exome analysis revealed a

Indexed as

GATA2 deficiencyinborn errors of immunityinterstitial lung diseasenonsense variantpulmonary hypertension

Identifiers

PMID40264496
PMCPMC12012643

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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 OpenQuestion graph.