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Autosomal dominant severe congenital neutropenia
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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
Detailed information
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
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Article for general public
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Clinical practice guidelines
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Review article
Clinical genetics review
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
- Research project(s) (50)
- Clinical trial(s) (2)
- Biobank(s) (10)
- Registry(ies) (49)
- Network of experts (8)
Newborn screening
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