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Article

Genetic defects in severe congenital neutropenia: emerging insights into life and death of human neutrophil granulocytes.

Annual review of immunology - 1 Jan 2011

Klein Christoph

Abstract excerpt

The discovery of genetic defects causing congenital neutropenia has illuminated mechanisms controlling differentiation, circulation, and decay of neutrophil granulocytes. Deficiency of the mitochondrial proteins HAX1 and AK2 cause premature apoptosis of myeloid progenitor cells associated with dissipation of the mitochondrial membrane potential, whereas mutations in ELA2/ELANE and G6PC3 are associated with signs...

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Source

Identifiers

PMID: 21219176
DOI: 10.1146/annurev-immunol-030409-101259

Genes

ELANE
GFI1
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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