ArticleBlood2015
GATA2 deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia.
Article in Blood, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 97 papers, 1 of them a synthesis that pooled it.
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Who cites it
97 citing papers in PubMed, 1 synthesis or guideline pooled it, 161 citations in OpenAlex.
- GATA2 deficiency and hemophagocytic lymphohistiocytosis (HLH): a systematic review of reported cases.BMC infectious diseases · 2024Pooled it
- Parvovirus B19 targets hematopoietic stem cells to disrupt multilineage differentiation and drive pancytopenia.Cell death and differentiation · 2026Article
- Pediatric MDS in GATA2 deficiency, narrowing the scope.Blood cancer journal · 2025Article
- A novel dominant-negative variant of IRF8 in a mother and son: Clinical, phenotypic and biological characteristics.The Journal of allergy and clinical immunology · 2025Article
- Extended clinical phenotypes and treatment modalities in 32 JAGN1-deficient patients: a multicenter study by ESID and EBMT IEWP.Blood advances · 2025Article
- Article
- Diagnostic features in paediatric MDS-EB with UBTF-internal tandem duplication: defining a unique subgroup.Histopathology · 2025Article
- Bone Marrow CD8 + Abundance Inversely Correlates with Progressive Marrow Fibrosis and Myelodysplastic Evolution in GATA2 Deficiency: Case Report.Journal of clinical immunology · 2025Article
- GATA2 mutated allele specific expression is associated with a hyporesponsive state of HSC in GATA2 deficiency syndrome.Blood cancer journal · 2025Article
- Inherited Predispositions to Myeloid Neoplasms: Pathogenesis and Clinical Implications.Annual review of pathology · 2025Review
- Multidisciplinary approaches to study anaemia with special mention on aplastic anaemia (Review).International journal of molecular medicine · 2024Review
- Malignant progression of preleukemic disorders.Blood · 2024Review
- Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of theInternational journal of molecular sciences · 2024Article
- Linking GATA2 to myeloid dysplasia and complex cytogenetics in adult myelodysplastic neoplasm and acute myeloid leukemia.Blood advances · 2024Article
- Inborn Errors of Immunity and Cytokine Storm Syndromes.Advances in experimental medicine and biology · 2024Review
- MicroRNA dysregulation in myelodysplastic syndromes: implications for diagnosis, prognosis, and therapeutic response.Frontiers in oncology · 2024Review
- When to consider inherited marrow failure syndromes in adults.Hematology. American Society of Hematology. Education Program · 2023Article
- How I diagnose myeloid neoplasms with germline predisposition.American journal of clinical pathology · 2023Article
- Role of the pioneer transcription factor GATA2 in health and disease.Journal of molecular medicine (Berlin, Germany) · 2023Review
- GATA2 Deficiency: Predisposition to Myeloid Malignancy and Hematopoietic Cell Transplantation.Current hematologic malignancy reports · 2023Review
37 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
12 authors at 2 institutions in 1 country.
Funding
Abstract
Germ-line GATA2 gene mutations, leading to haploinsufficiency, have been identified in patients with familial myelodysplastic syndrome/acute myeloid leukemia, monocytopenia and mycobacterial infections, Emberger syndrome, and dendritic cell, monocyte, B-, and NK-cell deficiency. GATA2 mutations have also been reported in a minority of patients with congenital neutropenia and aplastic anemia (AA). The bone marrow (BM) from patients with GATA2 deficiency is typically hypocellular, with varying degrees of dysplasia. Distinguishing GATA2 patients from those with AA is critical for selecting appropriate therapy. We compared the BM flow cytometric, morphologic, and cytogenetic features of 28 GATA2 patients with those of 32 patients being evaluated for idiopathic AA. The marrow of GATA2 patients had severely reduced monocytes, B cells, and NK cells; absent hematogones; and inverted CD4:CD8 ratios. Atypical megakaryocytes and abnormal cytogenetics were more common in GATA2 marrows. CD34(+) cells were comparably reduced in GATA2 and AA. Using these criteria, we prospectively identified 4 of 32 patients with suspected AA who had features suspicious for GATA2 mutations, later confirmed by DNA sequencing. Our results show that routine BM flow cytometry, morphology, and cytogenetics in patients who present with cytopenia(s) can identify patients for whom GATA2 sequencing is indicated.
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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.