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Kostmann syndrome

Disease definition

Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients.

ORPHA:99749

  • Synonym(s):
    • Infantile agranulocytosis
    • Severe congenital neutropenia type 3
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: -
  • ICD-10: D70
  • OMIM: 610738
  • UMLS: -
  • MeSH: -
  • GARD: 302
  • MedDRA: -

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