ArticleBlood advances2021
Neutrophil specific granule and NETosis defects in gray platelet syndrome.
Article in Blood advances, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 33 citations in OpenAlex.
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- Epigenome-Wide Association Study in Asian Cohort Identifies Novel DNA Methylation Markers for Carotid Intima-Media Thickness.medRxiv : the preprint server for health sciences · 2025Article
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- Unveiling the Gray: A Rare Case of Gray Platelet Syndrome With Hepatomegaly and Immune Dysregulation in a 14-Year-Old.Case reports in hematology · 2025Article
- Reduced myeloid commitment and increased uptake by macrophages of stem cell-derived HPS2 neutrophils.Life science alliance · 2024Article
- Neutrophil-like cells derived from the HL-60 cell-line as a genetically-tractable model for neutrophil degranulation.PloS one · 2024Article
- Identification of Potential Drug Targets for Antiplatelet Therapy Specifically Targeting Platelets of Old Individuals through Proteomic Analysis.Biomedicines · 2023Article
- 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
- Mutations in Neurobeachin-like 2 do not impact Weibel-Palade body biogenesis and von Willebrand factor secretion in gray platelet syndrome Endothelial Colony Forming Cells.Research and practice in thrombosis and haemostasis · 2023Article
- Humanized MISTRG as a preclinicalFrontiers in immunology · 2023Article
- Diagnosing Czech Patients with Inherited Platelet Disorders.International journal of molecular sciences · 2022Article
- A Novel CEBPE Variant Causes Severe Infections and Profound Neutropenia.Journal of clinical immunology · 2022Article
- Patients with Chromosome 11q Deletions Are Characterized by Inborn Errors of Immunity Involving both B and T Lymphocytes.Journal of clinical immunology · 2022Article
- Dexamethasone, but Not Vitamin D or A, Dampens the Inflammatory Neutrophil Response to Protect At-risk COVID-19 Patients.Immune network · 2022Article
- Inherited Platelet Disorders: An Updated Overview.International journal of molecular sciences · 2021Review
- The Missing Protein: Is T-Cadherin a Previously Unknown GPI-Anchored Receptor on Platelets?Membranes · 2021Article
- A Deep Dive into the Pathology of Gray Platelet Syndrome: New Insights on Immune Dysregulation.Journal of blood medicine · 2021Review
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Authors and funding
21 authors at 7 institutions in 4 countries.
Funding
Abstract
Gray platelet syndrome (GPS) is an autosomal recessive bleeding disorder characterized by a lack of α-granules in platelets and progressive myelofibrosis. Rare loss-of-function variants in neurobeachin-like 2 (NBEAL2), a member of the family of beige and Chédiak-Higashi (BEACH) genes, are causal of GPS. It is suggested that BEACH domain containing proteins are involved in fusion, fission, and trafficking of vesicles and granules. Studies in knockout mice suggest that NBEAL2 may control the formation and retention of granules in neutrophils. We found that neutrophils obtained from the peripheral blood from 13 patients with GPS have a normal distribution of azurophilic granules but show a deficiency of specific granules (SGs), as confirmed by immunoelectron microscopy and mass spectrometry proteomics analyses. CD34+ hematopoietic stem cells (HSCs) from patients with GPS differentiated into mature neutrophils also lacked NBEAL2 expression but showed similar SG protein expression as control cells. This is indicative of normal granulopoiesis in GPS and identifies NBEAL2 as a potentially important regulator of granule release. Patient neutrophil functions, including production of reactive oxygen species, chemotaxis, and killing of bacteria and fungi, were intact. NETosis was absent in circulating GPS neutrophils. Lack of NETosis is suggested to be independent of NBEAL2 expression but associated with SG defects instead, as indicated by comparison with HSC-derived neutrophils. Since patients with GPS do not excessively suffer from infections, the consequence of the reduced SG content and lack of NETosis for innate immunity remains to be explored.
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