ArticleBlood2014
GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity.
Article in Blood, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00404560 (Screening Protocol for Detection and Characterization of Infections and Infection Susceptibility), which is not on this map. Cited by 387 papers, 5 of them syntheses that pooled it.
What it found
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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.
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.
Screening Protocol for Detection and Characterization of Infections and Infection Susceptibility
Who cites it
387 citing papers in PubMed, 5 syntheses or guidelines pooled it, 695 citations in OpenAlex.
- Global research on NK cells in miscarriage: a bibliometric study.Frontiers in medicine · 2025Pooled it
- Prognostic significance of GATA2 in patients with MDS/AML: a systematic review and meta-analysis.Annals of hematology · 2024Pooled it
- GATA2 deficiency and hemophagocytic lymphohistiocytosis (HLH): a systematic review of reported cases.BMC infectious diseases · 2024Pooled it
- Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Pooled it
- Nocardiosis Associated with Primary Immunodeficiencies (Nocar-DIP): an International Retrospective Study and Literature Review.Journal of clinical immunology · 2020Pooled it
- A systems perspective on monoallelic inborn errors of immunity.Nature genetics · 2026Review
- SLF2 and SMC5 dysfunction drives HSC aging and predisposes to MDS, defining a new inherited bone marrow failure syndrome.Leukemia · 2026Article
- Recurrent and unusual infections unmasking a rare inborn error of immunity: a case report RAS-associated Autoimmune Lymphoproliferative Disease (RALD).BMC pediatrics · 2026Article
- GATA1 repression-mediated ADRB2/cAMP/PKA signaling activation underlies the antidepressant effects of targeted geniposide delivery.Cell death discovery · 2026Article
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- [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
- GATA2 deficiency exacerbates chronic liver injuryWorld journal of stem cells · 2026Article
- Common cutaneous signs unmasking a severe hematological disorder: GATA2 deficiency.Dermatology online journal · 2026Article
- Long-term outcome after allogeneic stem cell transplantation for GATA2 deficiency: An analysis of 67 adults and children from France and Belgium.British journal of haematology · 2026Article
- Malignancies in patients with inborn errors of immunity: insights from 20-years of clinical experience in Qatar.Frontiers in immunology · 2026Article
- X-linked hyper-IgM syndrome presenting as severeFrontiers in immunology · 2026Article
- Human iPSCs-based modeling unveils SETBP1 as a driver of chromatin rewiring in GATA2 deficiency.Nature communications · 2025Article
327 more citing papers are in PubMed but not listed here.
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Authors and funding
25 authors at 10 institutions in 1 country.
Funding
Abstract
Haploinsufficiency of the hematopoietic transcription factor GATA2 underlies monocytopenia and mycobacterial infections; dendritic cell, monocyte, B, and natural killer (NK) lymphoid deficiency; familial myelodysplastic syndromes (MDS)/acute myeloid leukemia (AML); and Emberger syndrome (primary lymphedema with MDS). A comprehensive examination of the clinical features of GATA2 deficiency is currently lacking. We reviewed the medical records of 57 patients with GATA2 deficiency evaluated at the National Institutes of Health from January 1, 1992, to March 1, 2013, and categorized mutations as missense, null, or regulatory to identify genotype-phenotype associations. We identified a broad spectrum of disease: hematologic (MDS 84%, AML 14%, chronic myelomonocytic leukemia 8%), infectious (severe viral 70%, disseminated mycobacterial 53%, and invasive fungal infections 16%), pulmonary (diffusion 79% and ventilatory defects 63%, pulmonary alveolar proteinosis 18%, pulmonary arterial hypertension 9%), dermatologic (warts 53%, panniculitis 30%), neoplastic (human papillomavirus+ tumors 35%, Epstein-Barr virus+ tumors 4%), vascular/lymphatic (venous thrombosis 25%, lymphedema 11%), sensorineural hearing loss 76%, miscarriage 33%, and hypothyroidism 14%. Viral infections and lymphedema were more common in individuals with null mutations (P = .038 and P = .006, respectively). Monocytopenia, B, NK, and CD4 lymphocytopenia correlated with the presence of disease (P < .001). GATA2 deficiency unites susceptibility to MDS/AML, immunodeficiency, pulmonary disease, and vascular/lymphatic dysfunction. Early genetic diagnosis is critical to direct clinical management, preventive care, and family screening.
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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.