Kostmann disease and other forms of severe congenital neutropenia

Congenital neutropenia with autosomal recessive inheritance was first described by the Swedish paediatrician Rolf Kostmann who coined the term 'infantile genetic agranulocytosis'. The condition is now commonly referred to as Kostmann disease. These patients display a maturation arrest of the myelopoiesis in the bone marrow and reduced neutrophil numbers and suffer from recurrent, often life-threatening infections. The molecular mechanism underlying congenital neutropenia has been intensively investigated, and mutations in genes that impinge on programmed cell death have been identified. The present review provides an overview of these studies.

Automated summary

Kostmann disease, also known as congenital neutropenia, is a rare genetic disorder characterized by maturation arrest of myelopoiesis in the bone marrow and reduced neutrophil numbers. Mutations in genes related to programmed cell death play a crucial role in the pathogenesis of this disease, leading to recurrent infections in affected individuals.