Case Report: A successful case of allogeneic stem cell transplantation for pediatric XMEN characterized by neutropenia

XMEN disease (X-linked immunodeficiency with magnesium defect, EBV infection, and neoplasia) is a rare Inborn Error of Immunity (IEI)characterized by impaired magnesium ion transport due to mutations in the <i>MAGT1</i> gene, which subsequently affects immune cell function. Timely diagnosis and prompt intervention are essential for improving patient outcomes. Allogeneic hematopoietic stem cell transplantation (HSCT) offers a potential therapeutic approach to restore <i>MAGT1</i> function. We report an infant with XMEN who acquired a novel mutation in the <i>MAGT1</i> gene, presenting recurrent severe skin infections and neutropenia after 6 months of age, which was effectively managed following aggressive anti-infective treatment and HSCT.