X-linked severe congenital neutropenia
X-linked severe congenital neutropenia 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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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X-linked severe congenital neutropenia?
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