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Article

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 - 12 Jul 2025

Chen Xinying, Zhao Xiaoxin, Pan Bo, Wang Lianyu, Xie Wensi, Jiang Wenwen, Yang Jinghua, Wu Weixia, Li Yanxin

Abstract excerpt

Congenital neutropenia (CN) is a rare hereditary blood disorder characterized by a significant reduction in neutrophils, making patients prone to recurrent and severe infections and even a risk of developing myelodysplastic syndrome or acute leukemia, often caused by the ELANE variants, and the complex relationship between ELANE variants and clinical phenotypes, as well as the natural course of the disease,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40650809
DOI: 10.1007/s10875-025-01905-y
PMCID: PMC12255554

Genes

ELANE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

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De Novo Missense Variant c.170 C > A of ELANE in a Chinese Infant with Congenital Neutropenia: Case Report and Literature Review.PMID 40650809Read ↗

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

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

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

De Novo Deep Intron ELANE Mutation Resulting 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 ↗

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 ↗

Heterogeneous genetic landscape of congenital neutropenia in Korean patients revealed by whole exome sequencing: genetic, phenotypic and histologic correlations.Semantic proximity Read ↗

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

Congenital neutropenia in a newborn.Semantic proximity Read ↗

Severe congenital neutropenia, SRP54 pathogenicity, and a framework for surveillance.Semantic proximity Read ↗

Screening of genetic variants in ELANE mutation negative congenital neutropenia by next generation sequencing.Semantic proximity Read ↗

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