Pediatric autoimmune diseases with ELANE gene mutation associated with neutropenia

Abstract Objective To explore the clinical characteristics of autoimmune diseases in children with ELANE gene mutation. Methods: Three cases of children with ELANE gene mutation manifested as autoimmune disease were retrospectively analyzed from April 2020 to May 2021. Results: They were 2 males and 1 female, aged 15 years, 1 year and 10 months and 1 year and 10 months, respectively. All of them had recurrent infection. Case 1 presented with cyclic neutropenia and systemic lupus erythematosus. Case 2 presented with severe neutropenia and autoimmune hemolytic anemia. Case 3 presented with severe neutropenia and ANCA-associated small vasculitis. Genetic tests showed that they all had heterozygous mutations in ELANE gene. Case 1 was treated with methylprednisolone and hydroxychloroquine sulfate for 2 years, and had normal neutrophils. Case 2 received allogeneic hematopoietic stem cell transplantation and has stopped taking all drugs. Case 3 received subcutaneous injection of granulocyte colony-stimulating factor, oral prednisone and cyclophosphamide. He has been followed up for one year, and his neutrophils increased to 1.56×109/L. Conclusion Patients with ELANE gene mutation may have recurrent infection, and combined with autoimmune disease. DMARDs are effective for autoimmune disease. Allogeneic hematopoietic stem cell transplantation can cure the disease.