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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: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: D70
  • OMIM: 202700  257100  613107  618752  619813
  • UMLS: -
  • MeSH: -
  • GARD: 9558
  • MedDRA: -

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