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Cyclic neutropenia
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Disease definition
A rare primary immunodeficiency characterized by regular oscillations in blood neutrophil counts from normal or subnormal levels to severe neutropenia, usually with a cycle length of about 21 days. Symptoms during the neutropenic phase include fever, mouth ulcers, but also pneumonia, and peritonitis, among others. Mode of inheritance is autosomal dominant.
ORPHA:2686
Detailed information
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: produced/endorsed by FSMR(s)
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Disease review articles
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) (9)
- Registry(ies) (31)
- Network of experts (7)
Newborn screening
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