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X-linked severe congenital neutropenia

rare

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.

Identifiers
MONDO:0010294 OMIM:300299Orphanet:86788
Causal genes
WAS
Part of
X-linked diseaseSevere congenital neutropenia
Also known as
neutropenia, severe congenital, X-linked · neutropenia, severe congenital, X-linked, X-linked recessive · SCNX · severe congenital neutropenia X-linked · severe congenital neutropenia, X-linked

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