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Article

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

Journal of Korean medical science - 1 Mar 2014

Cho Hye-Kyung, Jeon In Sang

Abstract excerpt

Severe congenital neutropenia (SCN) is a heterogeneous group of disorders with a defect in granulopoiesis causing marked neutropenia and severe bacterial infections. A 17-month-old girl (patient 1) was admitted due to cervical lymphadenitis caused by methicillin-resistant Staphylococcus aureus, w...

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Identifiers

PMID: 24616599
DOI: 10.3346/jkms.2014.29.3.452
PMCID: PMC3945145

Genes

ELANE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24616599-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Different clinical phenotypes in familial severe congenital neutropenia cases with same mutation of the ELANE gene.PMID 24616599Read ↗

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

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

Four novel ELANE mutations in patients with congenital neutropenia.Semantic proximity Read ↗

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

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

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

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

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 ↗

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 ↗

Severe congenital neutropenia in a multigenerational family with a novel neutrophil elastase (ELANE) mutation.Semantic proximity Read ↗

Severe congenital neutropenias.Semantic proximity Read ↗

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