ReviewCurrent opinion in allergy and clinical immunology2015
GATA2 deficiency.
Review in Current opinion in allergy and clinical immunology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 74 papers, 1 of them a synthesis 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
74 citing papers in PubMed, 1 synthesis or guideline pooled it, 146 citations in OpenAlex.
- GATA2 deficiency and hemophagocytic lymphohistiocytosis (HLH): a systematic review of reported cases.BMC infectious diseases · 2024Pooled it
- Navigating primary and secondary immunodeficiency intersections: how to find IEI hidden within SID.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and 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
- Network-based integrative analysis of multi-level regulatory mechanisms associated with glyphosate exposure.Frontiers in bioinformatics · 2026Article
- Cross-tissue molecular responses in the liver and blood after toxicant exposures.Research square · 2025Article
- Inborn Errors of Immunity in Pediatric Hematology and Oncology: Diagnostic Principles for Clinical Practice.Journal of clinical medicine · 2025Review
- Effects of Cytokines (or Activating Factors) on Arterial Endothelial Cells.International journal of molecular sciences · 2025Review
- Pediatric Acute Megakaryoblastic Leukemia with a GATA2 Mutation and Monosomy 7: A Case Report and Clinical Management Challenges.Reports (MDPI) · 2025Article
- Aggressive Head and Neck Squamous Cell Carcinoma in the Setting of GATA2 Deficiency.Head & neck · 2025Article
- GATA2 deficiency presenting with Hodgkin's lymphoma and cryptogenic organizing pneumonia: a case report of two siblings.Frontiers in medicine · 2025Article
- Case Report: GATA2 deficiency in two families with novel frameshift variants highlighting phenotypic diversity and need for early diagnosis.Frontiers in immunology · 2025Article
- Infections and antimicrobial prophylaxis in patients with myelodysplastic syndromes.Seminars in hematology · 2024Review
- Evaluation of recurrent and recalcitrant warts in a deaf adolescent male reveals GATA2 deficiency.The journal of allergy and clinical immunology. Global · 2024Article
- BAFF-associated granulomatous lung disease in a patient with GATA2 deficiency.The journal of allergy and clinical immunology. Global · 2024Article
- High frequency of GATA2 variants in patients with pulmonary fungal disease without immunocompromised risk factors: a retrospective study.Journal of thoracic disease · 2024Article
- Germline predisposition to myeloid neoplasms: Characteristics and management of high versus variable penetrance disorders.Best practice & research. Clinical haematology · 2024Review
- Germline Variants and Characteristic Features of Hereditary Hematological Malignancy Syndrome.International journal of molecular sciences · 2024Review
- KIF20A activated by transcription factor GATA2 promotes cell growth in hepatitis B virus-related hepatocellular carcinoma.Frontiers in cellular and infection microbiology · 2024Article
- A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype-phenotype Association.Journal of clinical immunology · 2023Article
14 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 3 institutions in 1 country.
Funding
Abstract
purpose of reviewGATA2 deficiency is a germline disease that causes a wide spectrum of phenotypes including viral and bacterial infections, cytopenias, myelodysplasia, myeloid leukemias, pulmonary alveolar proteinosis and lymphedema. The age of clinical presentation ranges from early childhood to late adulthood, with most occurring in adolescence to early adulthood. We review the expanding GATA2-deficient phenotype, molecular genetics of disease and developments in treatment. RECENT
findingsGATA2 mutations have been found in up to 10% of those with congenital neutropenia and/or aplastic anemia. Heterozygous mutations appear to cause haploinsufficiency due to either protein dysfunction or uniallelic reduced transcription. Disease-associated mutations in intronic regulatory elements or variations within the 5' leader exons indicate that regulation of GATA2 is critical. Those with GATA2 mutations are at high risk for myelodysplasia, cytogenetic abnormalities, acute myeloid leukemia or chronic myelomonocytic leukemia. Bone marrow transplantation has been successful for both hematopoietic and pulmonary alveolar proteinosis repair. SUMMARY: GATA2 is a zinc finger transcription factor essential for embryonic and definitive hematopoiesis as well as lymphatic angiogenesis. GATA2 deficiency is caused by a variety of mutations in the GATA2 gene and can have variable presentation, onset and outcome. Patients are susceptible to mycobacterial, viral and fungal infections and can develop myelodysplasia, acute or chronic leukemias, lymphedema and pulmonary alveolar proteinosis. Hematopoietic stem cell transplantation reverses most of the clinical phenotype with good long-term outcomes.
Indexed as
Identifiers
What OpenQuestion holds
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.