ArticleBlood2023
The spectrum of GATA2 deficiency syndrome.
Article in Blood, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers, 1 of them a synthesis that pooled it.
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Who cites it
61 citing papers in PubMed, 1 synthesis or guideline pooled it, 80 citations in OpenAlex.
- Prognostic significance of GATA2 in patients with MDS/AML: a systematic review and meta-analysis.Annals of hematology · 2024Pooled it
- Successful allogeneic hematopoietic stem cell transplantation in children with myeloid malignancies secondary to GATA2 deficiency using decitabine-containing busulfan conditioning.Bone marrow transplantation · 2026Article
- Bone marrow failure syndromes across the age spectrum: diagnostic and therapeutic principles.EClinicalMedicine · 2026Review
- SLF2 and SMC5 dysfunction drives HSC aging and predisposes to MDS, defining a new inherited bone marrow failure syndrome.Leukemia · 2026Article
- Genetic influences on haematopoiesis.Nature reviews. Genetics · 2026Review
- X-linked SEPTIN6-related congenital neutropenia and B cell deficiency.Journal of human immunity · 2026Article
- Genome-wide association study in 21,271 individuals identifies 9 novel loci associated with circulating CD34HemaSphere · 2026Article
- Article
- [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
- GATA2 Deficiency Syndrome: A Case Series and Literature Review.Journal of clinical immunology · 2026Review
- Common cutaneous signs unmasking a severe hematological disorder: GATA2 deficiency.Dermatology online journal · 2026Article
- Modeling myeloid cell development in health and disease using induced pluripotent stem cells.Frontiers in immunology · 2026Review
- Co-occurrence of GATA2 deficiency and probable constitutional mosaic STAG2 alteration in a young adult with myelodysplastic syndrome: a case report.Frontiers in medicine · 2026Article
- How to Read a Next-Generation Sequencing Report for AML and MDS? What Hematologists Need to Know.Journal of clinical medicine · 2025Review
- Functional dissection of the gene regulatory mechanism underlying variation in blood CD34Scientific reports · 2025Article
- Myelodysplastic syndromes: Updates on Genomic Landscape, Molecular Subtypes, & Targeted Therapies.Current hematologic malignancy reports · 2025Review
- Inborn Errors of Immunity in Pediatric Hematology and Oncology: Diagnostic Principles for Clinical Practice.Journal of clinical medicine · 2025Review
- Acquired Bernard-Soulier syndrome as the presenting feature of GATA2-related myeloid neoplasm in an adolescent: an insight into the mechanisms underlying the platelet defect.Haematologica · 2025Article
- Identification of Genetic Variants Using Next-Generation Sequencing in Pediatric Myelodysplastic Syndrome: From Disease Biology to Clinical Applications.International journal of molecular sciences · 2025Article
1 more citing papers are in PubMed but not listed here.
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2 authors at 2 institutions in 1 country.
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Abstract
Inherited or de novo germ line heterozygous mutations in the gene encoding the transcription factor GATA2 lead to its deficiency. This results in a constellation of clinical features including nontuberculous mycobacterial, bacterial, fungal, and human papillomavirus infections, lymphedema, pulmonary alveolar proteinosis, and myelodysplasia. The onset, or even the presence, of disease is highly variable, even in kindreds with the identical mutation in GATA2. The clinical manifestations result from the loss of a multilineage progenitor that gives rise to B lymphocytes, monocytes, natural killer cells, and dendritic cells, leading to cytopenias of these lineages and subsequent infections. The bone marrow failure is typically characterized by hypocellularity. Dysplasia may either be absent or subtle but typically evolves into multilineage dysplasia with prominent dysmegakaryopoiesis, followed in some instances by progression to myeloid malignancies, specifically myelodysplastic syndrome, acute myelogenous leukemia, and chronic myelomonocytic leukemia. The latter 3 malignancies often occur in the setting of monosomy 7, trisomy 8, and acquired mutations in ASXL1 or in STAG2. Importantly, myeloid malignancy may represent the primary presentation of disease without recognition of other syndromic features. Allogeneic hematopoietic stem cell transplantation (HSCT) results in reversal of the phenotype. There remain important unanswered questions in GATA2 deficiency, including the following: (1) Why do some family members remain asymptomatic despite harboring deleterious mutations in GATA2? (2) What are the genetic changes that lead to myeloid progression? (3) What causes the apparent genetic anticipation? (4) What is the role of preemptive HSCT?
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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.