ReviewCurrent opinion in hematology2015
The diversity of mutations and clinical outcomes for ELANE-associated neutropenia.
Review in Current opinion in hematology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 77 papers, 1 of them a synthesis that pooled it.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
77 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Clinical relevance of SCN and CyN induced by ELANE mutations: a systematic review.Frontiers in immunology · 2024Pooled it
- Neutropenia in glycogen storage disease Ib: outcomes for patients treated with granulocyte colony-stimulating factor.Current opinion in hematology · 2019Trial
- Palatal Perforation as a Rare Presentation of Severe Congenital Neutropenia Due to an ELANE Mutation.Cureus · 2026Article
- Article
- Case Report: A rare adult case ofFrontiers in immunology · 2026Article
- A case report ofFrontiers in immunology · 2026Article
- Targeted inhibition ofMolecular therapy. Methods & clinical development · 2025Article
- Cellular and molecular features of acute myeloid leukemia investigation based on single-cell RNA sequencing.Cancer cell international · 2025Article
- De Novo Missense Variant c.170 C > A of ELANE in a Chinese Infant with Congenital Neutropenia: Case Report and Literature Review.Journal of clinical immunology · 2025Review
- Flavopiridol restores granulopoiesis in experimental models of severe congenital neutropenia.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- Article
- Germline predisposition in multiple myeloma.iScience · 2025Article
- Exploring the landscape of congenital and idiopathic neutropenia in Moroccan children: a comprehensive retrospective analysis.Immunologic research · 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
- Severe Congenital Neutropenia in a Newborn Caused by a Novel Mutation in theCase reports in pediatrics · 2025Article
- Cyclic neutropenia: a case report and literature review.American journal of translational research · 2025Article
- Comparison of Gene-Editing Approaches for Severe Congenital Neutropenia-Causing Mutations in theThe CRISPR journal · 2024Article
- De Novo Deep Intron ELANE Mutation Resulting in Severe Congenital Neutropenia.Journal of clinical immunology · 2024Article
- CRISPR-Cas9n-mediated ELANE promoter editing for gene therapy of severe congenital neutropenia.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
17 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
15 authors.
Funding
Abstract
purpose of reviewMutations in the gene for neutrophil elastase, ELANE, cause cyclic neutropenia (CyN) and severe congenital neutropenia (SCN). This study summarized data from the Severe Chronic Neutropenia International Registry (SCNIR) on genotype-phenotype relationships of ELANE mutations to important clinical outcomes. We also summarize findings for ELANE mutations not observed in SCNIR patients. RECENT
findingsThere were 307 SCNIR patients with 104 distinctive ELANE mutations who were followed longitudinally for up to 27 years. The ELANE mutations were diverse; there were 65 single amino acid substitutions; 61 of these mutations (94%) were 'probably' or 'possibly damaging' by PolyPhen-2 analysis, and one of the 'benign' mutations was associated with two cases of acute myeloid leukemia (AML). All frame-shift mutations (19/19) were associated with the SCN. The pattern of mutations in the SCN versus CyN was significantly different (P < 10), but some mutations were observed in both groups (overlapping mutations). The cumulative incidence of severe adverse events, that is, myelodysplasia, AML, stem cell transplantation, or deaths was significantly greater for patients with SCN versus those with CyN or overlapping mutations. Specific mutations (i.e. G214R or C151Y) had a high risk for evolution to AML. SUMMARY: Sequencing is useful for predicting outcomes of ELANE-associated neutropenia.
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