Severe Congenital Neutropenia Type 7, Autosomal Recessive

**Semantic type:** Disease or Syndrome

**Definition:** Severe congenital neutropenia inherited in an autosomal recessive pattern and caused by mutation(s) in the CSF3R gene, encoding granulocyte colony-stimulating factor receptor. It is characterized by the onset of recurrent infections in infancy or early childhood and peripheral neutropenia, despite normal granulocyte maturation, that is unresponsive to treatment with G-CSF.

**Synonyms:** - Neutropenia, Severe Congenital, 7, Autosomal Recessive - SCN 7-Autosomal Recessive - SCN7