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Article

Identifying patients with neutrophil elastase (ELANE) mutations from patients with a presumptive diagnosis of autoimmune neutropenia.

Immunobiology - 1 May 2013

Lee Wen-I, Chen Shih-Hsiang, Huang Jing-Long, Jaing Tang-Her, Chung Hung-Tao, Yeh Kuo-Wei, Chen Li-Chen, Yao Tsung-Chieh, Hsieh Meng-Ying, Lin Syh-Jae, Kuo Ming-Ling

Abstract excerpt

To differentiate severe congenital neutropenia (SCN) from autoimmune neutropenia (AIN) in patients with persistent neutropenia ≤1000/mm(3) over three months, we evaluated anti-neutrophil auto-antibodies, candidate genes of ELANA, HAX1 and GCSFR, and neutrophil elastase (NE) activity in 38 patients (21 females; average onset age 14.12 ± 2.49 months) in a primary immunodeficiency disease center between 2004 and...

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Source

Identifiers

PMID: 23206890
DOI: 10.1016/j.imbio.2012.09.001

Genes

ELANE
HAX1

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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Identifying patients with neutrophil elastase (ELANE) mutations from patients with a presumptive diagnosis of autoimmune neutropenia.PMID 23206890Read ↗

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

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Neutrophil Elastase Defects in Congenital Neutropenia.Semantic proximity Read ↗

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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 ↗

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