ArticleHuman mutation2021
GATA2 deficiency syndrome: A decade of discovery.
Article in Human mutation, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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Who cites it
42 citing papers in PubMed, 1 synthesis or guideline pooled it, 68 citations in OpenAlex.
- Prognostic significance of GATA2 in patients with MDS/AML: a systematic review and meta-analysis.Annals of hematology · 2024Pooled it
- Bone marrow failure syndromes across the age spectrum: diagnostic and therapeutic principles.EClinicalMedicine · 2026Review
- Rare variants in genes related to inborn errors of immunity in patients with rheumatoid arthritis and secondary immunodeficiency.RMD open · 2026Article
- Acquired epidermodysplasia verruciformis presenting as isolated genital hypopigmentation in a renal transplant recipient: a rare case report.Infectious agents and cancer · 2026Article
- [Clinical characteristics and prognosis of myelodysplastic neoplasms with GATA2 mutations].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2026Article
- Hemophagocytic Lymphohistiocytosis Triggered byClinical case reports · 2026Article
- Review
- GATA2 Deficiency Syndrome: A Case Series and Literature Review.Journal of clinical immunology · 2026Review
- Moving Beyond Somatic Alterations: Uncovering the Germline Basis of Myeloid Malignancies.Cancers · 2026Review
- Human iPSCs-based modeling unveils SETBP1 as a driver of chromatin rewiring in GATA2 deficiency.Nature communications · 2025Article
- Whole-Genome Sequencing Reveals a NovelCancers · 2025Article
- A Novel Approach to Prognostic Factors and Risk Stratification in Pediatric AML: Case Report and Literature Review.International journal of molecular sciences · 2025Review
- Germline and somatic genetic landscape of pediatric myelodysplastic syndromes.Haematologica · 2025Review
- Age-dependent phenotypic and molecular evolution of pediatric MDS arising from GATA2 deficiency.Blood cancer journal · 2025Article
- Aggressive Head and Neck Squamous Cell Carcinoma in the Setting of GATA2 Deficiency.Head & neck · 2025Article
- Expanding the phenotypic and genetic landscape of congenital neutropenia through whole-exome and genome sequencing.HemaSphere · 2025Article
- Myelodysplastic Neoplasms (MDS): Pathogenesis and Therapeutic Prospects.Biomolecules · 2025Review
- GATA2 Deficiency With Early-Onset and Progressive Interstitial Lung Disease.Respirology case reports · 2025Article
- GATA2 mutated allele specific expression is associated with a hyporesponsive state of HSC in GATA2 deficiency syndrome.Blood cancer journal · 2025Article
- Rare Case of Germline GATA2-Deficiency With Merkel Cell Carcinoma and Acute Myeloid Leukemia.Cancer reports (Hoboken, N.J.) · 2024Article
Corrections and comments
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Authors and funding
13 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
GATA2 deficiency syndrome (G2DS) is a rare autosomal dominant genetic disease predisposing to a range of symptoms, of which myeloid malignancy and immunodeficiency including recurrent infections are most common. In the last decade since it was first reported, there have been over 480 individuals identified carrying a pathogenic or likely pathogenic germline GATA2 variant with symptoms of G2DS, with 240 of these confirmed to be familial and 24 de novo. For those that develop myeloid malignancy (75% of all carriers with G2DS disease symptoms), the median age of onset is 17 years (range 0-78 years) and myelodysplastic syndrome is the first diagnosis in 75% of these cases with acute myeloid leukemia in a further 9%. All variant types appear to predispose to myeloid malignancy and immunodeficiency. Apart from lymphedema in which haploinsufficiency seems necessary, the mutational requirements of the other less common G2DS phenotypes is still unclear. These predominantly loss-of-function variants impact GATA2 expression and function in numerous ways including perturbations to DNA binding, protein structure, protein:protein interactions, and gene transcription, splicing, and expression. In this review, we provide the first expert-curated ACMG/AMP classification with codes of published variants compatible for use in clinical or diagnostic settings.
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Registered trials
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.