/X-linked severe congenital neutropenia

X-linked severe congenital neutropenia

Rare Disease

MONDO:0010294

Also Known As

X-linked severe congenital neutropenianeutropenia, severe congenital, X-linked, X-linked recessivesevere congenital neutropenia, X-linkedSCNXXlnneutropenia, severe congenital, X-linkedsevere congenital neutropenia X-linked

Definition

This syndrome is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein.