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Article

Neutrophil Elastase Defects in Congenital Neutropenia.

Frontiers in immunology - 1 Jan 2021

Rydzynska Zuzanna, Pawlik Bartlomiej, Krzyzanowski Damian, Mlynarski Wojciech, Madzio Joanna

Abstract excerpt

Severe congenital neutropenia (SCN) is a rare hematological condition with heterogenous genetic background. Neutrophil elastase (NE) encoded by ELANE gene is mutated in over half of the SCN cases. The role of NE defects in myelocytes maturation arrest in bone marrow is widely investigated; however, the mechanism underlying this phenomenon has still remained unclear. In this review, we sum up the studies exploring...

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Share to Leukocyte Elastase
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Congenital Bone Marrow Failure Syndromes

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Share to Protein Processing, Post-Translational

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Source

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Identifiers

PMID: 33968054
DOI: 10.3389/fimmu.2021.653932
PMCID: PMC8100030

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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