ArticleThe Journal of clinical investigation2017
NBEAL2 is required for neutrophil and NK cell function and pathogen defense.
Article in The Journal of clinical investigation, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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.
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Who cites it
19 citing papers in PubMed, 35 citations in OpenAlex.
- APOA1, DEFB103A_DEFB103B and DSG3 Are Novel Circulating Biomarkers of Psoriasis.International journal of molecular sciences · 2026Article
- Nbeal2 Inactivation Triggers Abl1 Stabilisation and Dysregulated Subcellular Localisation of the Multi-Drug-Resistant Protein MDR1 (ABCB1) in Mast Cells.Immunology · 2026Article
- Nbeal2 knockout mice are not protected against hypoxia-induced pulmonary vascular remodeling and pulmonary hypertension.Blood advances · 2025Article
- Arf1-dependent LRBA recruitment to Rab4 endosomes is required for endolysosome homeostasis.The Journal of cell biology · 2024Article
- Proteomic analyses reveal cystatin c is a promising biomarker for evaluation of systemic lupus erythematosus.Clinical proteomics · 2023Article
- NBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cells.Nature communications · 2023Article
- Transcriptomic Profiling of Mouse Mast Cells upon Pathogenic Avian H5N1 and Pandemic H1N1 Influenza a Virus Infection.Viruses · 2022Article
- The relationship between cytokine and neutrophil gene network distinguishes SARS-CoV-2-infected patients by sex and age.JCI insight · 2021Article
- Neutrophil specific granule and NETosis defects in gray platelet syndrome.Blood advances · 2021Article
- A Deep Dive into the Pathology of Gray Platelet Syndrome: New Insights on Immune Dysregulation.Journal of blood medicine · 2021Review
- Gray platelet syndrome: immunity goes awry.Blood · 2020Article
- Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome.Blood · 2020Article
- Inherited thrombocytopenias: history, advances and perspectives.Haematologica · 2020Review
- From Anti-EBV Immune Responses to the EBV Diseasome via Cross-reactivity.Global medical genetics · 2020Article
- Platelet α-granules are required for occlusive high-shear-rate thrombosis.Blood advances · 2020Article
- Platelet α-granules contribute to organ-specific pathologies in a mouse model of severe malaria.Blood advances · 2020Article
- Genomic and transcriptomic investigations of the evolutionary transition from oviparity to viviparity.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- Nbeal2 Deficiency Increases Organ Damage but Does Not Affect Host Defense During Gram-Negative Pneumonia-Derived Sepsis.Arteriosclerosis, thrombosis, and vascular biology · 2018Article
- Nbeal2 interacts with Dock7, Sec16a, and Vac14.Blood · 2018Article
Corrections and comments
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Authors and funding
22 authors at 5 institutions in 2 countries.
Funding
Abstract
Mutations in the human NBEAL2 gene cause gray platelet syndrome (GPS), a bleeding diathesis characterized by a lack of α granules in platelets. The functions of the NBEAL2 protein have not been explored outside platelet biology, but there are reports of increased frequency of infection and abnormal neutrophil morphology in patients with GPS. We therefore investigated the role of NBEAL2 in immunity by analyzing the phenotype of Nbeal2-deficient mice. We found profound abnormalities in the Nbeal2-deficient immune system, particularly in the function of neutrophils and NK cells. Phenotyping of Nbeal2-deficient neutrophils showed a severe reduction in granule contents across all granule subsets. Despite this, Nbeal2-deficient neutrophils had an enhanced phagocyte respiratory burst relative to Nbeal2-expressing neutrophils. This respiratory burst was associated with increased expression of cytosolic components of the NADPH oxidase complex. Nbeal2-deficient NK cells were also dysfunctional and showed reduced degranulation. These abnormalities were associated with increased susceptibility to both bacterial (Staphylococcus aureus) and viral (murine CMV) infection in vivo. These results define an essential role for NBEAL2 in mammalian immunity.
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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.