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Article

Genetic etiologies of severe congenital neutropenia.

Current opinion in pediatrics - 1 Feb 2011

Boztug Kaan, Klein Christoph

Abstract excerpt

PURPOSE OF REVIEW: To review recent advances in severe congenital neutropenia (SCN) syndromes. RECENT FINDINGS: The majority of patients with SCN bear monoallelic mutations in the neutrophil elastase (ELANE) gene. Biallelic mutations in the antiapoptotic gene HAX1 were identified in patients with autosomal recessive SCN. G6PC3 deficiency is a syndromic variant of SCN associating congenital neutropenia with...

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Source

Identifiers

PMID: 21206270
DOI: 10.1097/MOP.0b013e32834262f8

Genes

ELANE
HAX1
GFI1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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