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X-linked severe congenital neutropenia
Disease definition
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.
ORPHA:86788
Classification level: DisorderDetailed information
Article for general public
Professionals
- Emergency guidelines
- Español (2009, pdf)
- Français (2009, pdf)
- Italiano (2012, pdf)
- Review article
- English (2011)
- Clinical genetics review
- English (2016)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.