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ArticleFrontiers in immunology2025

Case Report: GATA2 deficiency in two families with novel frameshift variants highlighting phenotypic diversity and need for early diagnosis.

Miko Morimoto, Takuro Nishikawa, Atsushi Hijikata, Hiroshi Kasabata, Nobuhisa Maeda, Shuji Kanmura, Shogo Horikawa, Jun Nagahama, Aki Nakamura, Tatsuro Nakamura and 6 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
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

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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

16 authors.

Miko MorimotoDepartment of Pediatrics, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, Japan.
Takuro NishikawaDepartment of Pediatrics, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, 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.
Nobuhisa MaedaDigestive and Lifestyle Diseases, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
Shuji KanmuraDigestive and Lifestyle Diseases, Kagoshima University Graduate School of Medical and Dental Sciences, 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.
Tatsuro 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.
Kazuhiro ShimuraDepartment of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
Satoshi NarumiDepartment of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
Hirokazu KaneganeDepartment of Child Health and Development, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, 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: GATA2 deficiency, a syndrome caused by heterozygous loss-of-function variants in the Case presentation: This report presented the case of two adolescent boys with no family history of novel heterozygous frameshift Conclusion: These cases expand the phenotypic spectrum of GATA2 deficiency and highlight that atypical IBD-like symptoms, including Crohn's disease-like presentations, may cause an initial manifestation. GATA2 deficiency should be considered in patients with IBD-like symptoms, refractory skin disorders, and hematological abnormalities. Early genetic testing and family screening are essential to ensuring timely diagnosis and curative hematopoietic stem cell transplantation before progression to advanced myeloid disease.

Indexed as

Frameshift MutationGATA2 DeficiencyGATA2 Transcription FactorAdolescentEarly DiagnosisHumansMalePedigreePhenotypeGATA2 protein, humanGATA2 Transcription Factoracute myeloid leukemiaCrohn diseaseGATA2 genehematopoietic stem cell transplantationmyelodysplastic syndromestructural analysis

Identifiers

PMID40821825
PMCPMC12350120

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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.