Congenital neutropenias in adults

Abstract

Congenital neutropenias (CNs) are a group of genetic disorders that can even be diagnosed in adulthood. In that case, they manifest as rather mild neutropenia and cytopenia. Other clinical symptoms tend to be milder compared to CN diagnosed in childhood. Several gene variants responsible for the CN phenotype have been identified by molecular genetic approaches, especially by exome sequencing. Mutations of some of these genes also put the patients at an increased risk of myelodysplastic syndrome or development of acute myeloid leukemia. Proper patient monitoring strategies, genetic counseling, and optimal treatment protocol can substantially influence the prognosis of these disorders.