• Jing Wang, Haitao Zhang, Yu Wang, Lei Liang, and Zeyu Yang.
• Department of Respiratory, Anhui Provincial Children's Hospital Affiliated to Anhui Medical University, Hefei, China.
• Medicine (Baltimore). 2022 Nov 4; 101 (44): e31357e31357.

RationaleThe Severe congenital neutropenia (SCN) is a rare genetic disease characterized by a deficiency of mature neutrophils in the bone marrow and peripheral blood disorders. After a BALF ACER examination, the patient was found to have a rareMycobacterium abscess infection.Patient ConcernsWe report a case of SCN withMycobacterium abscess infection caused by ELANE gene mutation. Conventional antiinfection and granulocyte colony-stimulating factor (G-CSF) did not ameliorate patient's symptoms. The absolute neutrophil count (ANC) most of the time < 0.50 × 109/L.DiagnosesAccording to Gene sequencing and other tests, the patient was diagnosed with SCN caused by ELANE gene mutation, severe pneumonia, Mycobacteriosis abscess, nutritional iron deficiency anemia, multiple abscesses of the skin, hypergammaglobuloemia, and thrush.InterventionsAnti-infection agents, abscess incision and drainage, blood transfusion, G-CSF were treated.OutcomesThe fever subsided, the cough disappeared, the anemia improved, and the ANC improved (0.69 × 109/L). Currently, the patient has been followed up in the outpatient clinic for 20months, during which time fever, bone pain, gingivitis and thrush occasionally appeared. The ANC fluctuated between 0.20 and 1.27 × 109/L, suggesting the need for a timely hematopoietic stem cell transplant (HSCT).LessonsELANE gene-related SCN is rare in children, and the possibility of this disease should be considered in children with recurrent severe bacterial infections and a significant reduction in neutrophils in the peripheral blood shortly after birth. In addition to strengthening nursing care and actively preventing and controlling infection, other rare bacterial infections should be considered in clinical practice.Copyright © 2022 the Author(s). Published by Wolters Kluwer Health, Inc.

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