{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T11:47:12Z","timestamp":1791978432130,"version":"4.4.0"},"reference-count":27,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2022,3,9]],"date-time":"2022-03-09T00:00:00Z","timestamp":1646784000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,3,9]],"date-time":"2022-03-09T00:00:00Z","timestamp":1646784000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Genes Immun"],"abstract":"<jats:title>Abstract<\/jats:title><jats:p>XMEN (X-linked immunodeficiency with magnesium defect) is caused by loss-of-function mutations in <jats:italic>MAGT1<\/jats:italic> which is encoded on the X chromosome. The disorder is characterised by CD4 lymphopenia, severe chronic viral infections and defective T-lymphocyte activation. XMEN patients are susceptible to Epstein-Barr virus infections and persistently low levels of intracellular Mg<jats:sup>2+<\/jats:sup>. Here we describe a patient that presented with multiple recurrent infections and a subsequent diffuse B-cell lymphoma. Molecular genetic analysis by exome sequencing identified a novel hemizygous <jats:italic>MAGT1<\/jats:italic> nonsense mutation c.1005T&gt;A (NM_032121.5) p.(Cys335*), confirming a diagnosis of XMEN deficiency. Follow-up immunophenotyping was performed by antibody staining and flow cytometry; proliferation was determined by <jats:sup>3<\/jats:sup>H-thymidine uptake after activation by PHA and anti-CD3. Cytotoxic natural killer cell activity was assessed with K562 target cells using the NKTEST<jats:sup>TM<\/jats:sup> assay. While lymphocyte populations were superficially intact, B cells were largely naive with a reduced memory cell compartment. Translated NKG2D was absent on both NK and T cells in the proband, and normally expressed in the carrier mother. In vitro NK cell activity was intact in both the proband and his mother. This report adds to the growing number of identified XMEN cases, raising awareness of a, still rare, X-linked immunodeficiency.<\/jats:p>","DOI":"10.1038\/s41435-022-00166-8","type":"journal-article","created":{"date-parts":[[2022,3,9]],"date-time":"2022-03-09T14:02:40Z","timestamp":1646834560000},"page":"66-72","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Identification of a novel MAGT1 mutation supports a diagnosis of XMEN disease"],"prefix":"10.1038","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2371-1844","authenticated-orcid":false,"given":"Christopher M.","family":"Watson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatima","family":"Nadat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sammiya","family":"Ahmed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura A.","family":"Crinnion","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sean","family":"O\u2019Riordan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clive","family":"Carter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7910-0554","authenticated-orcid":false,"given":"Sinisa","family":"Savic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,3,9]]},"reference":[{"key":"166_CR1","doi-asserted-by":"publisher","first-page":"471","DOI":"10.1038\/nature10246","volume":"475","author":"FY Li","year":"2011","unstructured":"Li FY, Chaigne-Delalande B, Kanellopoulou C, Davis JC, Matthews HF, Douek DC, et al. Second messenger role for Mg2+ revealed by human T-cell immunodeficiency. Nature. 2011;475:471\u20136.","journal-title":"Nature."},{"key":"166_CR2","doi-asserted-by":"publisher","first-page":"671","DOI":"10.1007\/s10875-020-00790-x","volume":"40","author":"JC Ravell","year":"2020","unstructured":"Ravell JC, Chauvin SD, He T, Lenardo M. An update on XMEN disease. J Clin Immunol. 2020;40:671\u201381.","journal-title":"J Clin Immunol."},{"key":"166_CR3","doi-asserted-by":"publisher","first-page":"2148","DOI":"10.1182\/blood-2013-11-538686","volume":"123","author":"FY Li","year":"2014","unstructured":"Li FY, Chaigne-Delalande B, Su H, Uzel G, Matthews H, Lenardo MJ. XMEN disease: a new primary immunodeficiency affecting Mg2+ regulation of immunity against Epstein-Barr virus. 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