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Article

Mutations in growth factor independent-1 associated with human neutropenia block murine granulopoiesis through colony stimulating factor-1.

Immunity - 1 Mar 2008

Zarebski Adrian, Velu Chinavenmeni S, Baktula Avinash M, Bourdeau Tristan, Horman Shane R, Basu Sudeep, Bertolone Salvatore J, Horwitz Marshal, Hildeman David A, Trent John O, Grimes H Leighton

Abstract excerpt

Severe congenital neutropenia (SCN) is characterized by a deficiency of mature neutrophils, leading to recurrent bacterial and fungal infections. Although mutations in Elastase-2, neutrophil (ELA2) predominate in human SCN, mutation of Ela2 in mice does not recapitulate SCN. The growth factor ind...

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Identifiers

PMID: 18328744
DOI: 10.1016/j.immuni.2007.12.020
PMCID: PMC2835494

Genes

GFI1
CSF1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18328744-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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