ReviewBlood2007
Neutrophil elastase in cyclic and severe congenital neutropenia.
Review in Blood, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 82 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
82 citing papers in PubMed.
- Neutrophil function in children following allogeneic hematopoietic stem cell transplant.Pediatric transplantation · 2016Trial
- Pathogenesis of ELANE-mutant severe neutropenia revealed by induced pluripotent stem cells.The Journal of clinical investigation · 2015Trial
- The multidimensional signaling of ELANE: from congenital hematopoietic failure to immune microenvironment crosstalk and targeted interventions.Cell communication and signaling : CCS · 2026Review
- CRISPR-based therapeutic genome editing for inherited blood disorders.Nature reviews. Drug discovery · 2025Review
- Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome in Children-From Pathogenesis to Treatment Strategies: A Comprehensive Review.Paediatric drugs · 2025Review
- Inherited Predispositions to Myeloid Neoplasms: Pathogenesis and Clinical Implications.Annual review of pathology · 2025Review
- Pathogenesis and Therapy of Hermansky-Pudlak Syndrome (HPS)-Associated Pulmonary Fibrosis.International journal of molecular sciences · 2024Review
- Isolated Severe Neutropenia in Adults, Evaluation of Underlying Causes and Outcomes, Real-World Data Collected over a 5-Year Period in a Tertiary Referral Hospital.Medicina (Kaunas, Lithuania) · 2024Article
- Differential transcriptional control of hematopoiesis in congenital and cyclic neutropenia patients harboringHaematologica · 2024Article
- Reduced toxicity matched sibling bone marrow transplant results in excellent outcomes for severe congenital neutropenia.Frontiers in immunology · 2024Article
- Review
- High yield expression in Pichia pastoris of human neutrophil elastase fused to cytochrome B5.Protein expression and purification · 2023Article
- Mutant allele knockout with novel CRISPR nuclease promotes myelopoiesis in ELANE neutropenia.Molecular therapy. Methods & clinical development · 2022Article
- Assessment of Congenital Neutropenia in Children: Common Clinical Sceneries and Clues for Management.Mediterranean journal of hematology and infectious diseases · 2022Review
- Case report: Five-year periodontal management of a patient with two novel mutation sites inFrontiers in genetics · 2022Article
- Comparison of Gene Editing versus a Neutrophil Elastase Inhibitor as Potential Therapies forJournal of cellular immunology · 2022Article
- Hermansky-Pudlak syndrome type 2: A rare cause of severe periodontitis in adolescents-A case study.Frontiers in pediatrics · 2022Article
- Colony-stimulating factor 3 receptor (CSF3R) M696T mutation does not impact on clinical outcomes of a Ph+ acute lymphoblastic leukemia patient.Blood science (Baltimore, Md.) · 2021Article
- Dissecting ELANE neutropenia pathogenicity by human HSC gene editing.Cell stem cell · 2021Article
- Inflammatory Pseudotumor of Liver and Budd-Chiari Syndrome: a Tale During 10 Years of Follow-up in a Child with Severe Congenital Neutropenia.Journal of clinical immunology · 2021Article
22 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
6 authors.
Funding
Abstract
Mutations in ELA2 encoding the neutrophil granule protease, neutrophil elastase (NE), are the major cause of the 2 main forms of hereditary neutropenia, cyclic neutropenia and severe congenital neutropenia (SCN). Genetic evaluation of other forms of neutropenia in humans and model organisms has helped to illuminate the role of NE. A canine form of cyclic neutropenia corresponds to human Hermansky-Pudlak syndrome type 2 (HPS2) and results from mutations in AP3B1 encoding a subunit of a complex involved in the subcellular trafficking of vesicular cargo proteins (among which NE appears to be one). Rare cases of SCN are attributable to mutations in the transcriptional repressor Gfi1 (among whose regulatory targets also include ELA2). The ultimate biochemical consequences of the mutations are not yet known, however. Gene targeting of ELA2 has thus far failed to recapitulate neutropenia in mice. The cycling phenomenon and origins of leukemic transformation in SCN remain puzzling. Nevertheless, mutations in all 3 genes are capable of causing the mislocalization of NE and may also induce the unfolded protein response, suggesting that there might a convergent pathogenic mechanism focusing on NE.
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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.