Wenjin Jiang¹, Xiaowen Zhai¹, Xiaowen Qian¹, Hongsheng Wang¹, Xiaochuan Wang¹
1- Children's Hospital of Fudan University, China
Abstract Body
Introduction: Severe congenital neutropenia (SCN) is caused by germline mutations, most commonly in ELANE, impacting neutrophil maturation and leading to high risk of life-threatening infections. Approximately 10% of patients have neutropenia refractory to G-CSF and require allogeneic stem cell transplant(AlloSCT).
Objectives: To explore the clinical experience and efficacy of AlloSCTin the treatment of SCN.
Methods: A retrospective analysis was performed on the clinical data of 8 children with SCN caused by ELANE or HAX1 gene mutation, who were diagnosed and reated in the Department of Immunology and Department of Hematology , Children\\\'s Hospital of Fudan University , Shanghai, from Dec 2014 to Otc 2025, and finally received AlloSCT.
Results: The patients were aged 8–120 months, including 3 females and 5 males. Three patients received umbilical cord blood with 7–9 human leukocyte antigen(HLA)matches, 2 received unrelated peripheral blood stem cells with 9–10 HLA matches, 1 received matched sibling peripheral blood stem cells, and 2 received haploidentical peripheral blood stem cells. All patients underwent myeloablative conditioning. Primary graft failure occurred in 2 patients, both of whom received umbilical cord blood. All other patients achieved complete donor chimerism. The median time to neutrophil and platelet engraftment was 13 and 12 days, respectively . Two patients developed grade 2–3 acute graft-versus-host disease, 2 patients had CMV reactivation, and 1 patient developed hemorrhagic cystitis. As of the last follow-up in January 2026, all patients were alive.
Conclusions: AlloSCT can achieve good efficacy in the treatment of SCN, and long-term prognosis requires further follow-up. Umbilical cord blood may not be a suitable donor.