Severe congenital neutropenia (kostmann syndrome)‎

Abstract EN

Severe congenital neutropenia (SCN), Kostmann syndrome is a heterogenous disorder of myelopoiesis characterized by severe chronic neutropenia, absolute neutrophil count (ANC) persistently below 0.50 x 109/L, with maturation arrest of neutrophil precursors in the bone marrow; and associated with serious recurrent bacterial infections from early infancy.

Sepsis mortality is reduced by an advent of granulocyte colony stimulating factor (G-CSF) therapy.

More than 90% of patients respond to G-CSF therapy.

However, hematopoietic stem cell transplantation has shown promise in the treatment of non-responders.

About 60-80% of SCN cases are associated with constitutive mutations in one copy of the gene encoding neutrophil elastase ELA2.

Myelodysplastic syndrome and acute myeloid leukemia (MDS/AML) have been reported.

The hazard of MDS/AML increases significantly overtime.

Approximately 10% of patients with severe congenital neutropenia develop AML.

This is not thought to be the direct result of G-CSF therapy but related to the underlying disease itself.