X-linked severe congenital neutropenia

MONDO:0010294

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.

Also known as: X-linked severe congenital neutropenia, neutropenia, severe congenital, X-linked, X-linked recessive, severe congenital neutropenia, X-linked, SCNX, Xln, neutropenia, severe congenital, X-linked, severe congenital neutropenia X-linked

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