Abstract: Objective　To investigate clinical features, genetic diagnosis, management and prognosis of congenital neutropenia caused by ELANE gene mutation. Methods　Clinical manifestations, immunological data, gene mutation, processes of diagnosis and treatment of a patient with congenital neutropenia caused by ELANE gene mutation were retrospectively analyzed. Results　A 7-month old girl, suffered from neutropenia and recurrent infection for 6 months, presented with bronchial pneumonia and otitis media at 1 month old with suppurative cervical lymphadenitis, umbilical purulent infection, autoimmune hemolytic anemia and suspected juvenile myelomonocytic leukemia. When she was 2 months old, it progressed with obvious hepatomegaly and a slight enlargement of spleen, which lead to persistent neutropenia (0.1×109/L ~1.38×109/L), monocytosis (1.7×109/L ~3.58×109/L) and low hemoglobin levels (65 ~ 108 g/L). Multiple etiological culture tests were positive. Direct antihuman globulin test was strongly positive. Other abnormal immunological screens showed elevated levels of IgG (24.28 g/L), and increased B lymphocytes. Bone marrow smears showed myeloblasts (7%) and promonocyte (4.5%) without any neutral medium promyelocyte, neutral late promyelocyte or neutrophils. A heterozygous c.278_289del (p.93_97del) mutation of ELANE gene was identified by gene sequencing. Conclusions　The main clinical features of congenital neutropenia caused by ELANE gene mutation include refractory recurrent bacterial infections, and neutropenia possiblely accompanied by autoimmunity.