Further Support of Autosomal Recessive CSF3 ‐Related Severe Congenital Neutropenia

Mohammed Almannai; Ahmed A. Alhanshani; Khadijah Bakur; F Alkuraya

doi:10.1111/cge.70207

June 25, 2026Clinical Genetics

Further Support of Autosomal Recessive CSF3 ‐Related Severe Congenital Neutropenia

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Key Points

The aim is to confirm the link between the CSF3 gene and severe congenital neutropenia (SCN).
Detailed genetic analysis was performed to identify variants in the CSF3 gene.
Case report method used to present the findings of a homozygous pathogenic loss-of-function variant.
Identification of a homozygous pathogenic variant in CSF3 confirms its role in SCN.
This report supports the proposed gene-disease relationship for better prognostication and management.

Implication

Confirmatory report identifies a pathogenic variant in CSF3 linked to severe congenital neutropenia, suggesting a genetic basis.

Abstract

Severe congenital neutropenia (SCN) is a genetically heterogeneous condition. Reaching a molecular diagnosis is important for management, prognostication, and risk assessment. We present the first confirmatory report of a previously proposed SCN due to a homozygous pathogenic loss-of-function variant in CSF3. Our report supports this new gene-disease relationship in humans.

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Cite This Study

Almannai et al. (2026) studied this question.

synapsesocial.com/papers/6a40b99561bb0a67205c5c29 https://doi.org/10.1111/cge.70207

View Full Paper

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Further Support of Autosomal Recessive CSF3 ‐Related Severe Congenital Neutropenia

Key Points

Implication

Abstract

Discussion

Cite This Study

Further Support of Autosomal Recessive CSF3 ‐Related Severe Congenital Neutropenia

Key Points

Implication

Abstract

Discussion

Cite This Study

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