congenital neutropenia type 3 (Kostmann disease)

Pathology

• primary immunodeficiency syndrome
• increased apoptosis in myeloid cells

Genetics

• autosomal recessive
• associated with defects in HAX1

Clinical manifestations

• severe congenital neutropenia
• life-threatening bacterial infections

Laboratory

• complete blood count: neutropenia
• peripheral blood smear: few mature neutrophils
• bone marrow biopsy: few mature neutrophils

More general terms

• familial neutropenia

Database

• OMIM: https://mirror.omim.org/entry/610738