ArticleThe Journal of experimental medicine2009
An activating mutation in the CSF3R gene induces a hereditary chronic neutrophilia.
Article in The Journal of experimental medicine, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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Who cites it
39 citing papers in PubMed, 81 citations in OpenAlex.
- Colony-Stimulating Factor 3 Receptor Mutations and Variants in Hematological Malignancies.Cancers · 2025Review
- The spectrum of Ph-negative disease: CNL and CSF3R-related disorders.Hematology. American Society of Hematology. Education Program · 2024Review
- Review
- Article
- ANKRD26 is a new regulator of type I cytokine receptor signaling in normal and pathological hematopoiesis.Haematologica · 2023Article
- A novel colony stimulating factor 3 receptor activating mutation identified in a patient with chronic neutrophilic leukemia.Haematologica · 2023Article
- Co-Occurring CSF3R W791* Germline and Somatic T618I Driver Mutations Induce Early CNL and Clonal Progression to Mixed Phenotype Acute Leukemia.Current oncology (Toronto, Ont.) · 2022Article
- Genetic alterations in patients with chronic leucocytosis and persistent thrombocytosis.Journal of genetics · 2022Article
- A novel activating JAK1 mutation in chronic eosinophilic leukemia.Blood advances · 2021Article
- CSF3R T618I mutant chronic myelomonocytic leukemia (CMML) defines a proliferative CMML subtype enriched in ASXL1 mutations with adverse outcomes.Blood cancer journal · 2021Article
- Heterozygous germ line CSF3R variants as risk alleles for development of hematologic malignancies.Blood advances · 2020Article
- Mechanisms of Progression of Myeloid Preleukemia to Transformed Myeloid Leukemia in Children with Down Syndrome.Cancer cell · 2019Article
- A Novel Germline Variant in CSF3R Reduces N-Glycosylation and Exerts Potent Oncogenic Effects in Leukemia.Cancer research · 2018Article
- Gain-of-function mutations in granulocyte colony-stimulating factor receptor (CSF3R) reveal distinct mechanisms of CSF3R activation.The Journal of biological chemistry · 2018Article
- Identification of novelCold Spring Harbor molecular case studies · 2018Review
- Chronic neutrophilic leukemia: new science and new diagnostic criteria.Blood cancer journal · 2018Review
- JAK inhibitors for the treatment of myeloproliferative neoplasms and other disorders.F1000Research · 2018Review
- Recent Progress in Chronic Neutrophilic Leukemia and Atypical Chronic Myeloid Leukemia.Current hematologic malignancy reports · 2017Review
- Genomics of chronic neutrophilic leukemia.Blood · 2017Review
- Granulocyte colony-stimulating factor receptor signaling in severe congenital neutropenia, chronic neutrophilic leukemia, and related malignancies.Experimental hematology · 2017Review
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We identify an autosomal mutation in the CSF3R gene in a family with a chronic neutrophilia. This T617N mutation energetically favors dimerization of the granulocyte colony-stimulating factor (G-CSF) receptor transmembrane domain, and thus, strongly promotes constitutive activation of the receptor and hypersensitivity to G-CSF for proliferation and differentiation, which ultimately leads to chronic neutrophilia. Mutant hematopoietic stem cells yield a myeloproliferative-like disorder in xenotransplantation and syngenic mouse bone marrow engraftment assays. The survey of 12 affected individuals during three generations indicates that only one patient had a myelodysplastic syndrome. Our data thus indicate that mutations in the CSF3R gene can be responsible for hereditary neutrophilia mimicking a myeloproliferative disorder.
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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.