Severe congenital neutropenia
ORPHA:42738
Definition
A rare primary immunodeficiency, without an associated lymphocyte deficit, characterized by impaired neutrophil maturation and/or function, associated with severe infections, diverse comorbidities, and/or an increased risk of leukemic transformation.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Age of onset
- Childhood