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Article

Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis.

Blood - 15 Dec 2007

Grenda David S, Murakami Mark, Ghatak Jhuma, Xia Jun, Boxer Laurence A, Dale David, Dinauer Mary C, Link Daniel C

Abstract excerpt

Severe congenital neutropenia (SCN) is an inborn disorder of granulopoiesis. Mutations of the ELA2 gene encoding neutrophil elastase (NE) are responsible for most cases of SCN and cyclic neutropenia (CN), a related but milder disorder of granulopoiesis. However, the mechanisms by which these mutations disrupt granulopoiesis are unclear. We hypothesize that the ELA2 mutations result in the production of misfolded...

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Identifiers

PMID: 17761833
DOI: 10.1182/blood-2006-11-057299
PMCID: PMC2234798

Genes

XBP1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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