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Article

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

Frontiers in immunology - 1 Jan 2026

Chen Rongjie, Xu Zhe, Zhang Fu

Abstract excerpt

Objective: Childhood cyclic neutropenia (CN) is a rare hematopoietic disorder. We describe the clinical phenotype, diagnostic features, and management of a pediatric CN case caused by a de novo ELANE mutation, to improve clinical recognition and care. Methods: We retrospectively analyzed clinical, laboratory, and genetic data from a 7-year-old girl with CN, combined with bioinformatics and literature review to...

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Identifiers

PMID: 42058194
DOI: 10.3389/fimmu.2026.1815284
PMCID: PMC13121273

Genes

ELANE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Research trail→

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A case report of de novo ELANE c.416C>T mutation causing cyclic neutropenia in a 7-year-old girl.PMID 42058194Read ↗

The diversity of mutations and clinical outcomes for ELANE-associated neutropenia.Semantic proximity Read ↗

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

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

De Novo Deep Intron ELANE Mutation Resulting in Severe Congenital Neutropenia.Semantic proximity Read ↗

De Novo Missense Variant c.170 C > A of ELANE in a Chinese Infant with Congenital Neutropenia: Case Report and Literature Review.Semantic proximity Read ↗

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

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

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

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