familial neutropenia

Introduction

Includes:

• congenital hypoplastic neutropenia
• cyclic neutropenia
• congenital neutropenia G6PC3 type

Genetics

• most cases associated with defects in ELA2
• defect in G6PC3

More general terms

• neutropenia
• genetic disease of the blood/bone marrow

More specific terms

• congenital hypoplastic neutropenia (Kostmann's syndrome)
• congenital neutropenia G6PC3 type
• congenital neutropenia type 3 (Kostmann disease)
• cyclic neutropenia (cyclic hematopoiesis)
• dominant nonimmune chronic idiopathic neutropenia of adults
• neutropenia severe congenital autosomal dominant type 2