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Article

Human 'knockouts' of CSF3 display severe congenital neutropenia.

British journal of haematology - 1 Nov 2023

Khouj Ebtissal, Marafi Dana, Aljamal Bayan, Hajiya Anwar, Elshafie Reem M, Hashem Mais O, Abdulwahab Firdous, Jaafar Amal, Alshidi Tarfa, Aboelanine Ashraf H, Awaji Ali, Alkuraya Fowzan S

Abstract excerpt

Colony-stimulating factor 3 (CSF3) is a key factor in neutrophil production and function, and recombinant forms have been used clinically for decades to treat congenital and acquired neutropenia. Although biallelic inactivation of its receptor CSF3R is a well-established cause of severe congenital neutropenia (SCN), no corresponding Mendelian disease has been ascribed to date to CSF3. Here, we describe three...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 37612131
DOI: 10.1111/bjh.19054

Genes

CSF3
CSF3R

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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