X-linked severe congenital neutropenia
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.
MONDO:0000425
X-linked disease
is_a
MONDO:0018542
severe congenital neutropenia
is_a
SCNX
related
X-linked severe congenital neutropenia
exact
neutropenia, severe congenital, X-linked
related
neutropenia, severe congenital, X-linked, X-linked recessive
exact
severe congenital neutropenia X-linked
related
severe congenital neutropenia, X-linked
exact
SPAC4F10.15c