Severe Congenital Neutropenia Type 5, Autosomal Recessive

**Semantic type:** Disease or Syndrome

**Definition:** Severe congenital neutropenia inherited in an autosomal recessive pattern and caused by mutation(s) in the VPS45 gene, encoding vacuolar protein sorting-associated protein 45. It is characterized by neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis.

**Synonyms:** - Neutropenia, Severe Congenital, 5, Autosomal Recessive - SCN 5-Autosomal Recessive - SCN5