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

Frontiers in immunology - 1 Jan 2026

Jiang Zhenhua, Wen Diya, Liu Yuanyuan, Shi Mingyue, Liu Qiuyu, Bai Yanliang

Abstract excerpt

Severe congenital neutropenia (SCN) is a rare hematologic disorder characterized by recurrent and potentially life-threatening infections beginning in early childhood, associated with absolute neutrophil counts (ANCs) below 0.5×109/L. Mutations in the ELANE gene are the most prevalent cause of SCN. Gastrointestinal complications such as neutropenic enterocolitis (NE) are rarely reported as presenting...

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Identifiers

PMID: 42488649
DOI: 10.3389/fimmu.2026.1881387
PMCID: PMC13388031

Genes

ELANE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Case Report: A rare adult case of ELANE-related severe congenital neutropenia revealed by neutropenic enterocolitis.PMID 42488649Read ↗

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

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

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

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

Discerning clinicopathological features of congenital neutropenia syndromes: an approach to diagnostically challenging differential diagnoses.Semantic proximity Read ↗

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