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Article

ELANE gene mutation-induced cyclic neutropenia manifesting as recurrent fever with oral mucosal ulcer: A case report.

Medicine - 1 Mar 2018

Chen Xin, Peng Wansheng, Zhang Zhen, Wu Yumeng, Xu Jiali, Zhou Yan, Chen Li

Abstract excerpt

BACKGROUND: Cyclic neutropenia (CyN) is a rare hematological disease. Herein, a CyN girl, aged 3 years and 2 months, with recurrent fever and oral mucosal ulcer caused by neutrophil elastase (ELANE) gene mutation is reported. CASE PRESENTATION: A 3 years and 2 months old girl presented with recurrent fever and oral mucosal ulcer for 1 year. Routine blood test revealed that her absolute neutrophil count repeatedly...

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Identifiers

PMID: 29517659
DOI: 10.1097/MD.0000000000010031
PMCID: PMC5882443

Genes

ELANE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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ELANE gene mutation-induced cyclic neutropenia manifesting as recurrent fever with oral mucosal ulcer: A case report.PMID 29517659Read ↗

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

Severe congenital neutropenia caused by ELANE gene mutation: A case report and literature review.Semantic proximity Read ↗

Screening for ELANE, HAX1 and GFI1 gene mutations in children with neutropenia and clinical characterization of two novel mutations in ELANE gene.Semantic proximity Read ↗

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

Recurrent bacterial infections, but not fungal infections, characterise patients with ELANE-related neutropenia: a French Severe Chronic Neutropenia Registry study.Semantic proximity Read ↗

Cyclic neutropenia.Semantic proximity Read ↗

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

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

Case Report: A rare adult case of ELANE-related severe congenital neutropenia revealed by neutropenic enterocolitis.Semantic proximity Read ↗

Case report: A cyclic neutropenia patient with ELANE mutation accompanied by hemophagocytic lymphohistiocytosis.Semantic proximity Read ↗

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

Different clinical phenotypes in familial severe congenital neutropenia cases with same mutation of the ELANE gene.Semantic proximity Read ↗

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