Further Support of Autosomal Recessive CSF3 ‐Related Severe Congenital Neutropenia

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.