{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T20:18:23Z","timestamp":1768508303695,"version":"3.49.0"},"reference-count":16,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T00:00:00Z","timestamp":1768435200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Immunol."],"abstract":"<jats:p>\n                    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\n                    <jats:italic>MAGT1<\/jats:italic>\n                    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\n                    <jats:italic>MAGT1<\/jats:italic>\n                    function. We report an infant with XMEN who acquired a novel mutation in the\n                    <jats:italic>MAGT1<\/jats:italic>\n                    gene, presenting recurrent severe skin infections and neutropenia after 6 months of age, which was effectively managed following aggressive anti-infective treatment and HSCT.\n                  <\/jats:p>","DOI":"10.3389\/fimmu.2026.1687549","type":"journal-article","created":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T05:14:08Z","timestamp":1768454048000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: A successful case of allogeneic stem cell transplantation for pediatric XMEN characterized by neutropenia"],"prefix":"10.3389","volume":"17","author":[{"given":"Jieyu","family":"Tian","sequence":"first","affiliation":[{"name":"Hematology Center, Beijing Key Laboratory of Pediatric Hematology Oncology, National Key Discipline of Pediatrics (Capital Medical University), Key Laboratory of Major Diseases in Children, Ministry of Education, Beijing Children\u2019s Hospital, Capital Medical University, National Center for Children\u2019s Health","place":["Beijing, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie","family":"Zheng","sequence":"additional","affiliation":[{"name":"Hematology Center, Beijing Key Laboratory of Pediatric Hematology Oncology, National Key Discipline of Pediatrics (Capital Medical University), Key Laboratory of Major Diseases in Children, Ministry of Education, Beijing Children\u2019s Hospital, Capital Medical University, National Center for Children\u2019s Health","place":["Beijing, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maoquan","family":"Qin","sequence":"additional","affiliation":[{"name":"Hematology Center, Beijing Key Laboratory of Pediatric Hematology Oncology, National Key Discipline of Pediatrics (Capital Medical University), Key Laboratory of Major Diseases in Children, Ministry of Education, Beijing Children\u2019s Hospital, Capital Medical University, National Center for Children\u2019s Health","place":["Beijing, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huawei","family":"Mao","sequence":"additional","affiliation":[{"name":"Department of Immunology, Beijing Children\u2019s Hospital, Capital Medical University, National Center for Children\u2019s Health","place":["Beijing, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guanghua","family":"Zhu","sequence":"additional","affiliation":[{"name":"Hematology Center, Beijing Key Laboratory of Pediatric Hematology Oncology, National Key Discipline of Pediatrics (Capital Medical University), Key Laboratory of Major Diseases in Children, Ministry of Education, Beijing Children\u2019s Hospital, Capital Medical University, National Center for Children\u2019s Health","place":["Beijing, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2026,1,15]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-020-00790-x","article-title":"An update on xmen disease","volume":"40","author":"Ravell","year":"2020","journal-title":"J Clin Immunol"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.RA119.008903","article-title":"Magnesium transporter 1 (Magt1) deficiency causes selective defects in N-linked glycosylation and expression of immune-response genes","volume":"294","author":"Matsuda-Lennikov","year":"2019","journal-title":"J Biol Chem"},{"key":"B3","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/s10875-018-0573-0","article-title":"Successful bone marrow transplantation for xmen: hemorrhagic risk uncovered","volume":"39","author":"Dimitrova","year":"2019","journal-title":"J Clin Immunol"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2013-11-538686","article-title":"Xmen disease: A new primary immunodeficiency affecting mg2+ Regulation of immunity against epstein-barr virus","volume":"123","author":"Li","year":"2014","journal-title":"Blood"},{"key":"B5","doi-asserted-by":"publisher","first-page":"115","DOI":"10.3892\/ijmm.2022.5171","article-title":"Transcription factor klf16 activates magt1 to regulate the tumorigenesis and progression of breast cancer","volume":"50","author":"Li","year":"2022","journal-title":"Int J Mol Med"},{"key":"B6","doi-asserted-by":"publisher","first-page":"153","DOI":"10.1007\/s10875-024-01749-y","article-title":"Hlh and recurrent ebv lymphoma as the presenting manifestation of magt1 deficiency: A systematic review of the expanding disease spectrum","volume":"44","author":"Golloshi","year":"2024","journal-title":"J Clin Immunol"},{"key":"B7","doi-asserted-by":"publisher","first-page":"e13154","DOI":"10.1111\/sji.13154","article-title":"Xmen saved by magnesium","volume":"95","author":"Iyengar","year":"2022","journal-title":"Scand J Immunol"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.1172\/jci131116","article-title":"Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency xmen disease","volume":"130","author":"Ravell","year":"2020","journal-title":"J Clin Invest"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2021014687","article-title":"Hematopoietic stem cell transplantation for wiskott-aldrich syndrome: an ebmt inborn errors working party analysis","volume":"139","author":"Albert","year":"2022","journal-title":"Blood"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2020005590","article-title":"Hematopoietic cell transplantation in chronic granulomatous disease: A study of 712 children and adults","volume":"136","author":"Chiesa","year":"2020","journal-title":"Blood"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.1182\/bloodadvances.2020002185","article-title":"Allogeneic hematopoietic stem cell transplantation in leukocyte adhesion deficiency type I and iii","volume":"5","author":"Bakhtiar","year":"2021","journal-title":"Blood Adv"},{"key":"B12","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-022-01239-z","article-title":"Tcr\u03b1\u03b2-depleted haploidentical grafts are a safe alternative to hla-matched unrelated donor stem cell transplants for infants with severe combined immunodeficiency","volume":"42","author":"Tsilifis","year":"2022","journal-title":"J Clin Immunol"},{"key":"B13","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-016-0385-3","article-title":"Novel treatment of severe combined immunodeficiency utilizing ex-vivo T-cell depleted haploidentical hematopoietic stem cell transplantation and cd45ra+ Depleted donor lymphocyte infusions","volume":"11","author":"Brodszki","year":"2016","journal-title":"Orphanet J Rare Dis"},{"key":"B14","doi-asserted-by":"publisher","first-page":"513","DOI":"10.1016\/j.jtct.2023.05.019","article-title":"Cd3(+)Tcr\u03b1\u03b2\/cd19(+)-depleted mismatched family or unrelated donor salvage stem cell transplantation for graft dysfunction in inborn errors of immunity","volume":"29","author":"Ramanathan","year":"2023","journal-title":"Transplant Cell Ther"},{"key":"B15","doi-asserted-by":"publisher","DOI":"10.1038\/bmt.2015.238","article-title":"Busulfan fludarabine vs busulfan cyclophosphamide as a preparative regimen before allogeneic hematopoietic cell transplantation: systematic review and meta-analysis","volume":"51","author":"Ben-Barouch","year":"2016","journal-title":"Bone Marrow Transplant"},{"key":"B16","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1007\/s10875-019-00732-2","article-title":"Diversity of xmen disease: description of 2 novel variants and analysis of the lymphocyte phenotype","volume":"40","author":"Klinken","year":"2020","journal-title":"J Clin Immunol"}],"container-title":["Frontiers in Immunology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fimmu.2026.1687549\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T05:14:09Z","timestamp":1768454049000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fimmu.2026.1687549\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,15]]},"references-count":16,"alternative-id":["10.3389\/fimmu.2026.1687549"],"URL":"https:\/\/doi.org\/10.3389\/fimmu.2026.1687549","relation":{},"ISSN":["1664-3224"],"issn-type":[{"value":"1664-3224","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,15]]},"article-number":"1687549"}}