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Article

The diversity of mutations and clinical outcomes for ELANE-associated neutropenia.

Current opinion in hematology - 1 Jan 2015

Makaryan Vahagn, Zeidler Cornelia, Bolyard Audrey Anna, Skokowa Julia, Rodger Elin, Kelley Merideth L, Boxer Laurence A, Bonilla Mary Ann, Newburger Peter E, Shimamura Akiko, Zhu Bin, Rosenberg Philip S, Link Daniel C, Welte Karl, Dale David C

Abstract excerpt

PURPOSE OF REVIEW: Mutations 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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 25427142
DOI: 10.1097/MOH.0000000000000105
PMCID: PMC4380169

Genes

ELANE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

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The diversity of mutations and clinical outcomes for ELANE-associated neutropenia.PMID 25427142Read ↗

The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.Semantic proximity Read ↗

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ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology.Semantic proximity Read ↗

Clinical characteristics of severe congenital neutropenia caused by novel ELANE gene mutations.Semantic proximity Read ↗

A case report of de novo ELANE c.416C>T mutation causing cyclic neutropenia in a 7-year-old girl.Semantic proximity Read ↗

In Silico Analysis Revealed Five Novel High-Risk Single-Nucleotide Polymorphisms (rs200384291, rs201163886, rs193141883, rs201139487, and rs201723157) in ELANE Gene Causing Autosomal Dominant Severe Congenital Neutropenia 1 and Cyclic Hematopoiesis.Semantic proximity Read ↗

Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia.Semantic proximity Read ↗

Spectrum of ELANE mutations in congenital neutropenia: a single-centre study in patients of Indian origin.Semantic proximity Read ↗

[Clinical and genetic analysis of two patients with congenital neutropenia caused by ELANE gene mutation].Semantic proximity Read ↗

Clinical relevance of SCN and CyN induced by ELANE mutations: a systematic review.Semantic proximity Read ↗

Neutrophil extracellular traps formation driven by novel ELANE mutations in cyclic neutropenia patients.Semantic proximity Read ↗

Case Report: Characterization of known (c.607G>C) and novel (c.416C>G) ELANE mutations in two Mexican families with congenital neutropenia.Semantic proximity Read ↗

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