A Case of Delayed Diagnosis of Kostmann Syndrome in an Adolescent Boy

Kostmann Syndrome (KS) is a form of Severe Congenital Neutropenia with an estimated prevalence of 2.1 cases per million in the United States. KS is characterized by recurrent infections, stomatitis, isolated neutropenia, and early bone marrow promyelocytic/myelocytic arrest. It is diagnosed by genetic and bone marrow studies with an Absolute Neutrophil Count (ANC) under 200.