Further Support of Autosomal Recessive CSF3-Related Severe Congenital Neutropenia.

Clin GenetJun 25, 2026 (epub)
Case ReportHematologyOpen access

Mohammed Almannai, Ahmed A Alhanshani, Khadijah Bakur et al.

✦ AI-curated · Sources linked

Case in brief

A patient with severe congenital neutropenia (SCN) was evaluated and found to have a homozygous pathogenic loss-of-function variant in the CSF3 gene. This finding confirmed the proposed association between CSF3 mutations and SCN, providing clarity for the patient's management and prognostic considerations.

Diagnostic / clinical pearl

Identifying a homozygous pathogenic variant in the CSF3 gene can confirm a diagnosis of severe congenital neutropenia, aiding in patient management and risk assessment.

Source

PubMed · PMID 42358053Free full text on PubMed Central

Published in Clin Genet. This summary was written by xxcode from the publication's abstract and metadata. It is not peer reviewed and is not a substitute for the original article. For clinical decisions, review the original publication.

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