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Further Support of Autosomal Recessive CSF3 ‐Related Severe Congenital Neutropenia

Year: 2026

Type: article

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.

Source: Clinical Genetics

DOI: 10.1111/cge.70207

Authors: Mohammed Almannai, Ahmed A. Alhanshani, Khadijah Bakur, Fowzan S. Alkuraya