neutropenia severe congenital autosomal dominant type 2

Pathology

• disorder of hematopoiesis
• maturation arrest of granulopoiesis at the level of promyelocytes

Genetics

• associated with defects in GFI1

Clinical manifestations

• early onset of severe bacterial infections

Laboratory

• absolute neutrophil counts < 500/uL

More general terms

• familial neutropenia

Database

• OMIM: https://mirror.omim.org/entry/613107