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Article

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

The Pediatric infectious disease journal - 1 Feb 2015

Shu Zhou, Li Xiao-Hui, Bai Xiao-Ming, Zhang Zhi-Yong, Jiang Li-ping, Tang Xue-Mei, Zhao Xiao-dong

Abstract excerpt

BACKGROUND: Mutations within the ELANE gene, which encodes human neutrophil elastase, are the most common genetic causes of severe congenital neutropenia (SCN). No cases of SCN have been previously described from a Chinese population. Herein, we describe the clinical, hematologic and molecular characteristics of 7 Chinese SCN cases with novel ELANE mutations. METHODS: Seven Chinese pediatric patients (4 males and...

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Source

Identifiers

PMID: 25162927
DOI: 10.1097/INF.0000000000000522

Genes

ELANE

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.

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