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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

Classification level: Disorder
  • Synonym(s):
    • Infantile agranulocytosis
    • Severe congenital neutropenia type 3
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: -
  • ICD-10: D70
  • ICD-11: 4B00.00
  • OMIM: 610738
  • UMLS: -
  • MeSH: -
  • GARD: 302
  • MedDRA: -

  A summary on this disease is available in Español (2018) Italiano (2018) Nederlands (2018) Polski ()

Detailed information

General public

Guidelines

Disease review articles

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.