Severe congenital neutropenia associated with the ELANE gene in Chinese children: case report

INTRODUCTION Congenital neutropenia (CN) is a rare primary immunodeficiency disease that includes severe congenital neutropenia (SCN) as a major subtype. SCN was first described in 1956 by Rolf Kostmann, and is characterized by an absolute neutrophil count (ANC) of <0.5×109/L. SCN patients can also develop acute myelogenous leukemia (AML) and myelodysplastic syndrome (MDS).1 In this study, we report two pediatric patients from one family with SCN associated with the neutrophil elastase gene (ELANE).