congenital neutropenia
Pronunciation: noo-troh-PEE-nee-ah
A group of inherited disorders characterized by persistently low neutrophil counts, predisposing children to recurrent infections.
Full Definition
Congenital neutropenia encompasses a group of inherited disorders characterized by persistently low absolute neutrophil counts from birth or early childhood. The most severe form, severe congenital neutropenia (SCN), typically presents with absolute neutrophil counts below 500/μL and is associated with recurrent life-threatening bacterial infections. Various genetic causes have been identified, including mutations in ELANE, HAX1, G6PC3, and others. Clinical manifestations include recurrent skin infections, pneumonia, and oral ulcers. Some forms may be associated with additional features such as cardiac or neurologic abnormalities. Treatment typically involves granulocyte colony-stimulating factor, prophylactic antibiotics, and monitoring for leukemic transformation.
Usage
Usage note: May be specified as severe congenital neutropenia (SCN) for the most severe form.
In Context
- "Genetic testing revealed an ELANE mutation confirming the diagnosis of congenital neutropenia in the infant with recurrent infections." — Immunology consultation report