Catalog
Severe congenital neutropaenia
No MMS code
Link to WHO Definition
Severe congenital neutropaenia – http://id.who.int/icd/entity/473816983
Severe congenital neutropaenia is an immunodeficiency characterised by low levels of granulocytes (< 200/mm3) without an associated lymphocyte deficit. This neutropaenia leads to repeated bacterial or mycotic infections in various locations, mostly cutaneo-mucous, ear, nose, and throat, and pulmonary.
Parents
Children
- Congenital neutropaenia with myelokathexis
- Autosomal dominant severe congenital neutropaenia
- CSF3R-related severe congenital neutropaenia
- Kostmann syndrome
- X-linked severe congenital neutropaenia
- Autosomal recessive severe congenital neutropaenia due to G6PC3 deficiency
- Congenital neutropaenia associated with syndromal features
- Congenital neutropaenia with maturation arrest