Severe congenital neutropenia

Neutropenia: A genetic disorder of the bone marrow characterized by a lack of neutrophils, white blood cells important in fighting infection, evident at birth.

Children with SCN suffer from frequent bacterial (but not viral or fungal) infections They are also at increased risk for acute myelogenous leukemia (AML) and myelodysplasia.

SCN is genetically heterogeneous (a 'mixed bag').

Autosomal dominant and sporadic forms of SCN are caused by mutation in the neutrophil elastase gene (ELA2) on chromosome 19. There is an X-linked recessive form of SCN in males caused by mutation in the WAS gene (which is also mutant in the Wiskott-Aldrich syndrome).

Treatment of SCN is with GCSF (recombinant human granulocyte colony-stimulating factor).

The effects are remarkable.

GCST elevates the neutrophil count, helps resolve preexisting infections, diminishes the number of new infections, and results in significant improvements in survival and quality of life.

Patients treated with GCSF may nonetheless develop leukemia or myelodysplastic syndrome.

SCN is also known as Kostmann disease and infantile genetic agranulocytosis.