{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,12,18]],"date-time":"2024-12-18T05:35:21Z","timestamp":1734500121459,"version":"3.30.2"},"reference-count":0,"publisher":"Knowledge E DMCC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJAAI"],"abstract":"<jats:p>Loss-of-function mutations in magnesium transporter 1 (MAGT1) gene cause X-linked magnesium deficiency with Epstein\u2013Barr virus (EBV) infection and neoplasm (X-MEN), a disease with quite diverse clinical and immunological consequences. The phenotypic characteristics of the initially described patients included CD4+ T cell lymphopenia, immune deficiency, EBV viremia, and EBV-related lymphoproliferative disease. To date, a total of 25 patients have been reported. The spectrum of the MAGT1 defect ranges from other viral infections (HSV, VZV, CMV, MCV) and sinopulmonary bacterial infections, autoimmune diseases, non-EBV driven lymphoproliferative disease, Castleman disease, HHV8+ Kaposi's sarcoma, vasculitis (Kawasaki) to glycosylation defects in new patients. Here, we report 2 patients from two different families with novel MAGT1 mutations and different clinical features. The first patient presented with B cell lymphoma and low IgM level without recurrent infections. The second patient presented with recurrent upper respiratory tract infections, Kawasaki-like disease, hypogammaglobulinemia, and T cell lymphopenia. X-MEN disease is the first phenotype identified due to MAGT1 mutation. The identification of new mutations and atypical presentations will clarify whether there is a relationship between the genotype and the phenotype and the characteristics of the disease.<\/jats:p>","DOI":"10.18502\/ijaai.v21i1.8622","type":"journal-article","created":{"date-parts":[[2022,2,12]],"date-time":"2022-02-12T09:28:42Z","timestamp":1644658122000},"source":"Crossref","is-referenced-by-count":0,"title":["Scales of Magt1 Gene: Novel Mutations, Different Presentations"],"prefix":"10.18502","author":[{"given":"Sule","family":"Haskologlu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kubra","family":"Baskin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caner","family":"Aytekin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Candan","family":"Islamoglu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serdar","family":"Ceylaner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Figen","family":"Dogu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nurdan","family":"Tacyildiz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emel","family":"Unal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aydan","family":"Ikinciogullari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"7770","published-online":{"date-parts":[[2022,2,8]]},"container-title":["Iranian Journal of Allergy, Asthma and Immunology"],"original-title":[],"deposited":{"date-parts":[[2024,12,17]],"date-time":"2024-12-17T16:50:55Z","timestamp":1734454255000},"score":1,"resource":{"primary":{"URL":"http:\/\/publish.kne-publishing.com\/index.php\/IJAAI\/article\/view\/8622"},"secondary":[{"URL":"https:\/\/ijaai.tums.ac.ir\/index.php\/ijaai\/article\/view\/3111","label":"UNIVERSITY"},{"URL":"https:\/\/publish.kne-publishing.com\/index.php\/IJAAI\/article\/view\/8622","label":"PUBLISHER"}]},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,2,8]]},"references-count":0,"URL":"https:\/\/doi.org\/10.18502\/ijaai.v21i1.8622","relation":{},"ISSN":["1735-5249","1735-1502"],"issn-type":[{"type":"electronic","value":"1735-5249"},{"type":"print","value":"1735-1502"}],"subject":[],"published":{"date-parts":[[2022,2,8]]}}}