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

TL;DR

This case report describes a successful allogeneic stem cell transplant in a child with XMEN disease, a rare immune disorder, leading to improved health outcomes.

Contribution

The report presents a novel MAGT1 mutation and successful HSCT treatment in a pediatric XMEN case.

Findings

The infant had a novel mutation in the MAGT1 gene causing XMEN disease.

Allogeneic stem cell transplantation effectively managed the patient's severe infections and neutropenia.

Aggressive anti-infective treatment combined with HSCT improved clinical outcomes.

Abstract

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 MAGT1 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 MAGT1 function. We report an infant with XMEN who acquired a novel mutation in the MAGT1 gene, presenting recurrent severe skin infections and neutropenia after 6 months of age, which was effectively managed following aggressive anti-infective treatment and HSCT.

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