Severe congenital neutropenia

Severe congenital neutropenia is a condition that raises the risk of repeated infections because people with it have an abnormally low level of neutrophils, a white blood cell that takes part in inflammation and in fighting infection. The shortage is apparent at birth or soon afterward and leads to frequent infections from infancy, including infections of the sinuses, lungs and liver, along with fevers and inflammation of the gums and skin. About 40 percent of affected people have reduced bone density, and about 20 percent develop blood cancers such as myelodysplastic syndrome or leukemia during adolescence. Some have additional problems such as seizures, developmental delay, or heart and genital abnormalities. It can result from variants in many genes, about half of cases involving ELANE and 10 percent HAX1, and in about one third of people the cause is unknown. Incidence is estimated at 1 in 200,000. This entry records what the sources state and is not medical advice.