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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: DisorderA summary on this disease is available in Español (2018) Italiano (2018) Nederlands (2018) Polski ()
Detailed information
General public
- Article for general public
- English (2011) - Socialstyrelsen
- Svenska (2019) - Socialstyrelsen
Guidelines
- Emergency guidelines
- Español (2009, pdf) - Orphanet Urgences
- Français (2009, pdf) - Orphanet Urgences
- Italiano (2012, pdf) - Orphanet Urgences
Disease review articles
- Review article
- English (2011) - Orphanet J Rare Dis


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.