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Cyclic neutropenia

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

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: All ages
  • ICD-10: D70
  • OMIM: 162800
  • UMLS: C0221023
  • MeSH: C536227
  • GARD: 6229
  • MedDRA: 10053176

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