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Autosomal dominant severe congenital neutropenia
Disease definition
A rare primary immunodeficiency disorder characterized by autosomal dominant inheritance, absolute neutrophil counts below 0.5x10E9/L in the peripheral blood (on three separate occasions over a six month period), granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and early-onset, severe, recurrent bacterial infections.
ORPHA:486
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 (2018)
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.