ArticleBlood2013
Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset.
Article in Blood, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01011712 (The Natural History of Severe Viral Infections and Characterization of Immune Defects), which is not on this map. Cited by 146 papers, 2 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.
The Natural History of Severe Viral Infections and Characterization of Immune Defects
Who cites it
146 citing papers in PubMed, 2 syntheses or guidelines pooled it, 231 citations in OpenAlex.
- GATA2 deficiency and hemophagocytic lymphohistiocytosis (HLH): a systematic review of reported cases.BMC infectious diseases · 2024Pooled it
- Prognostic Significance of Tumor-Infiltrating Natural Killer Cells in Solid Tumors: A Systematic Review and Meta-Analysis.Frontiers in immunology · 2020Pooled it
- Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation.Haematologica · 2014Trial
- The Gdf15-xenobiotic receptor axis shapes NK cell maladaptation predicting cold tumors under environmental stress.Signal transduction and targeted therapy · 2026Article
- GATA2 Deficiency Syndrome: A Case Series and Literature Review.Journal of clinical immunology · 2026Review
- Varicella Zoster Virus Infection: Clinical Features, Molecular Pathogenesis, Treatment, and Prevention.MedComm · 2026Review
- Distinguishing Features of ILC2s During Type 2 Immune Responses.European journal of immunology · 2026Review
- Integrated long-read transcriptomic profiling of peripheral blood from ankylosing spondylitis patients identifies regulatory shifts and core genes associated with programmed cell death.Frontiers in immunology · 2026Article
- Malignancy and Autoimmune Susceptibility in Adult Patients with Human Inborn Errors of Immunity.Journal of clinical immunology · 2025Article
- Clinical, immunologic, and genetic characteristics of 148 patients with natural killer cell deficiency.The Journal of allergy and clinical immunology · 2025Article
- Article
- The Golgi complex governs natural killer cell lytic granule positioning to promote directionality in cytotoxicity.Cell reports · 2025Article
- Five decades of natural killer cell discovery.The Journal of experimental medicine · 2024Review
- Comparative dissection of transcriptional landscapes of human iPSC-NK differentiation and NK cell development.Life medicine · 2024Article
- Malignant progression of preleukemic disorders.Blood · 2024Review
- Haemophagocytic lymphohistiocytosis caused by GATA2 deficiency: a report on three patients.BMC infectious diseases · 2024Article
- MEF2C regulates NK cell effector functions through control of lipid metabolism.Nature immunology · 2024Article
- [Allogeneic hematopoietic stem cell transplantation in a patient with MonoMAC syndrome and hematopoietic dysplasia which was induced by GATA2 deficiency: a case report and literature review].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2024Review
- Unraveling the dynamic mechanisms of natural killer cells in viral infections: insights and implications.Virology journal · 2024Review
- Human PLCG2 haploinsufficiency results in a novel natural killer cell immunodeficiency.The Journal of allergy and clinical immunology · 2024Article
86 more citing papers are in PubMed but not listed here.
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Authors and funding
16 authors at 7 institutions in 1 country.
Funding
Abstract
Mutations in the transcription factor GATA2 underlie the syndrome of monocytopenia and B- and natural killer (NK)-cell lymphopenia associated with opportunistic infections and cancers. In addition, patients have recurrent and severe viral infections. NK cells play a critical role in mediating antiviral immunity. Human NK cells are thought to mature in a linear fashion, with the CD56(bright) stage preceding terminal maturation to the CD56(dim) stage, considered the most enabled for cytotoxicity. Here we report an NK cell functional defect in GATA2-deficient patients and extend this genetic lesion to what is considered to be the original NK cell-deficient patient. In most cases, GATA2 deficiency is accompanied by a severe reduction in peripheral blood NK cells and marked functional impairment. The NK cells detected in peripheral blood of some GATA2-deficient patients are exclusively of the CD56(dim) subset, which is recapitulated on in vitro NK cell differentiation. In vivo, interferon α treatment increased NK cell number and partially restored function but did not correct the paucity of CD56(bright) cells. Thus, GATA2 is required for the maturation of human NK cells and the maintenance of the CD56(bright) pool in the periphery. Defects in GATA2 are a novel cause of profound NK cell dysfunction.
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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.