label: Severe Congenital Neutropenia Type 5, Autosomal Recessive
label_lc: severe congenital neutropenia type 5, autosomal recessive
description: 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.