Chronic neutropenia in childhood

Abstract

Severe chronic neutropenia (SCN) comprises a heterogeneous group of disorders with a common hematological and clinical phenotype characterized by an absolute neutrophil count (ANC) below 0.5 ⋅ 109/l. Patients with SCN are prone to recurrent, often life-threatening bacterial infections. The discrimination between congenital and acquired neutropenias and the identification of causative gene mutations is of great importance for estimation of the prognosis. In the first 3–5 years of life, primary autoimmune neutropenia is the most frequent cause of SCN. Despite their rarity, congenital inherited neutropenias are of great value for the research on normal and pathological hematopoiesis and have a fundamental impact on the current knowledge of hematopoiesis. To date mutations in more than 30 different genes have been described, which are mainly associated with an increased risk (approximately 20%) for leukemia. Due to the availability and the treatment with the hematopoietic growth factor granulocyte colony-stimulating factor (G-CSF, filgrastim/lenograstim) the long-term prognosis of SCN patients has significantly improved. Bacterial infections can be prevented and patients experience an almost normal quality of life.