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

by Zheng, Jie , Qin, Maoquan , Zhu, Guanghua , Tian, Jieyu , Mao, Huawei

in Abscesses / Age / Allografts / Antibiotics / Blood / Bone marrow / Case Report / Cation Transport Proteins - genetics / Epstein-Barr virus / Fever / Graft versus host disease / Granulocytes / Hematology / Hematopoietic Stem Cell Transplantation / Hematopoietic stem cells / HSCT = hematopoietic stem cell transplant / Humans / IEI / Immune system / Immunodeficiency / Immunoglobulins / inborn errors of immunity / Infant / Lymphocytes / Magnesium / MAGT1 deletion / Male / Medical prognosis / Mutation / Neutropenia / Neutropenia - diagnosis / Neutropenia - etiology / Neutropenia - genetics / Neutropenia - therapy / Neutrophils / Patients / Pediatrics / Pneumonia / Recovery of function / Stem cell transplantation / Streptococcus infections / Transplantation, Homologous / Treatment Outcome / Viral infections / X-Linked Combined Immunodeficiency Diseases - diagnosis / X-Linked Combined Immunodeficiency Diseases - genetics / X-Linked Combined Immunodeficiency Diseases - therapy

2026

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

by Zheng, Jie , Qin, Maoquan , Zhu, Guanghua , Tian, Jieyu , Mao, Huawei

2026

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

by Zheng, Jie , Qin, Maoquan , Zhu, Guanghua , Tian, Jieyu , Mao, Huawei

2026

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Journal Article

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

Zheng, Jie,

Qin, Maoquan,

Zhu, Guanghua,

Tian, Jieyu,

Mao, Huawei

2026

Overview

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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Publisher

Frontiers Media SA,Frontiers Media S.A

Subject

/ Age

/ Blood