ReviewHematology/oncology clinics of North America2013
ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology.
Review in Hematology/oncology clinics of North America, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers.
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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
57 citing papers in PubMed, 120 citations in OpenAlex.
- Pathogenesis of ELANE-mutant severe neutropenia revealed by induced pluripotent stem cells.The Journal of clinical investigation · 2015Trial
- Episodic angioedema with eosinophilia (Gleich syndrome) is a multilineage cell cycling disorder.Haematologica · 2015Trial
- Innate immunity: current understandings and future perspectives.Signal transduction and targeted therapy · 2026Review
- A case report ofFrontiers in immunology · 2026Article
- Mechanism of sepsis regulation by ELANE via macrophage polarization.Scientific reports · 2025Article
- Review
- Multiple phenotypes and epigenetic profiles in a three-generation family history with GATA2 deficiency.Leukemia · 2025Article
- Case Report: Heterozygous out-of-frame frameshift variant inFrontiers in immunology · 2025Article
- The genetic landscape of congenital neutropenia in Poland: summary of the nationwide screening campaign.Frontiers in immunology · 2025Article
- Contribution of next generation sequencing to the diagnosis of inborn errors of immunity in a pediatric cohort.Frontiers in immunology · 2025Article
- The spectrum of Ph-negative disease: CNL and CSF3R-related disorders.Hematology. American Society of Hematology. Education Program · 2024Review
- G-CSF resistance of ELANE-mutant neutropenia depends on SERF1-containing truncated-neutrophil elastase aggregates.The Journal of clinical investigation · 2024Article
- Impact of different genetic mutations on granulocyte development and G-CSF responsiveness in congenital neutropenia.Blood advances · 2024Article
- Neutrophil Elastase Remodels Mammary Tumors to Facilitate Lung Metastasis.Molecular cancer therapeutics · 2024Article
- Screening for ELANE, HAX1 and GFI1 gene mutations in children with neutropenia and clinical characterization of two novel mutations in ELANE gene.BMC pediatrics · 2023Article
- Lack of eosinophil extracellular trap formation due to failure of plasma membrane breakdown in the absence of elastase.Blood advances · 2023Article
- Shwachman-Diamond syndromes: clinical, genetic, and biochemical insights from the rare variants.Haematologica · 2023Article
- High yield expression in Pichia pastoris of human neutrophil elastase fused to cytochrome B5.Protein expression and purification · 2023Article
- The formation and function of the neutrophil phagosome.Immunological reviews · 2023Review
- Case Report: Characterization of known (c.607G>C) and novel (c.416C>G)Frontiers in immunology · 2023Article
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
Abstract
The 2 main forms of hereditary neutropenia are cyclic (CN) and severe congenital (SCN) neutropenia. CN is an autosomal dominant disorder in which neutrophil counts fluctuate with 21-day periodicity. SCN consists of static neutropenia, with promyelocytic maturation arrest in the bone marrow. Unlike CN, SCN displays frequent acquisition of somatic mutations in the gene CSF3R. CN is caused by heterozygous mutations in the gene ELANE, encoding neutrophil elastase. SCN is genetically heterogeneous but is most frequently associated with ELANE mutations. We discuss how the mutations provide clues into the pathogenesis of neutropenia and describe current hypotheses for its molecular mechanisms.
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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.