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Article

Congenital Neutropenia Patient With Hypomorphic Biallelic CSF3R Mutation Responding to GCSF.

Journal of pediatric hematology/oncology - 1 Apr 2019

Yilmaz Karapinar Deniz, Akinci Burcu, Şahin Yaşar Akkiz, Hekimci Özdemir Hamiyet, Önder Siviş Zuhal, Onay Hüseyin, Özkinay Ferda

Abstract excerpt

Congenital neutropenia (CN) is a rare disorder, and the most common gene responsible for CN is ELANE. Furthermore, the mutations of HAX1, G6PC3, and JAGN1 genes may cause CN. These patients generally find great benefit from subcutaneous administration of Granulocyte Colony Stimulating Factor (GCSF). In recent years, Biallelic Colony Stimulating Factor 3 Receptor (CSF3R) mutations have been described as an...

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Source

Identifiers

PMID: 30028820
DOI: 10.1097/MPH.0000000000001258

Genes

ELANE
HAX1
JAGN1

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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