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

Abstract excerpt

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.

Topics

• Humans
• Neutropenia
• Genes, Recessive
• Congenital Bone Marrow Failure Syndromes
• Mutation
• Homozygote
• Genetic Predisposition to Disease