Li F-Y, 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;475:471–6.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Li F-Y, 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. Blood. 2014;123:2148–52.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Li F-Y, Chaigne-Delalande B, Kanellopoulou C, Davis JC, Matthews HF, Douek DC, et al. Signaling role for Mg2+ revealed by immunodeficiency due to loss of MagT1. Nature. 2011;475:471–6.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Blommaert E, Péanne R, Cherepanova NA, Rymen D, Rymen D, Staels F, et al. Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype. Proc Natl Acad Sci USA. 2019;116:9865–70.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Matsuda-Lennikov M, Biancalana M, Zou J, Zou J, Ravell JC, Zheng L, et al. Magnesium transporter 1 (MAGT1) deficiency causes selective defects in N-linked glycosylation and expression of immune-response genes. J Biol Chem. 2019;294:13638–56.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cherepanova NA, Shrimal S, Gilmore R. Oxidoreductase activity is necessary for N-glycosylation of cysteine-proximal acceptor sites in glycoproteins. J Cell Biol. 2014;206:525–39.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ding H, Li Y, Fang M, Chen J, Liu L, Lu Z, et al. Epigenetic activation of the TUSC3 gene as a potential therapy for XMEN disease. J Allergy Clin Immunol. 2023;151:1622-1633.e10.

Article  CAS  PubMed  Google Scholar 

Ravell JC, Matsuda-Lennikov M, Chauvin SD, Zou J, Zou J, Biancalana M, et al. Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease. J Clin Inv. 2019;130:507–22.

Article  Google Scholar 

Ravell JC, Chauvin SD, He T, Lenardo M. An Update on XMEN Disease. J Clin Immunol. 2020;40:671–81.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chaigne-Delalande B, Li F-Y, O’Connor GM, Lukacs MJ, Jiang P, Jiang P, et al. Mg2+ regulates cytotoxic functions of NK and CD8 T cells in chronic EBV infection through NKG2D. Science. 2013;341:186–91.

Shabani M, Nichols KE, Rezaei N. Primary immunodeficiencies associated with EBV-Induced lymphoproliferative disorders. Crit Rev Oncol Hematol. 2016;108:109–27.

Article  PubMed  Google Scholar 

Cohen JI, Jaffe ES, Dale JK, Pittaluga S, Heslop HE, Rooney CM, et al. Characterization and treatment of chronic active Epstein-Barr virus disease: a 28-year experience in the United States. Blood. 2011;117:5835–49.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chauvin SD, Chauvin SD, Price S, Zou J, Hunsberger S, Brofferio A, et al. A double-blind, placebo-controlled, crossover study of magnesium supplementation in patients with XMEN disease. J Clin Immunol. 2021;42(1):108–18.

Article  PubMed  PubMed Central  Google Scholar 

Iyengar VV, Chougule A, Gowri V, et al. XMEN saved by magnesium. Scand J Immunol. 2022;95:e13154.

Brault J, Meis RJ, Li L, Bello E, Liu T, Sweeney CL, et al. MAGT1 messenger RNA-corrected autologous T and natural killer cells for potential cell therapy in X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia disease. Cytotherapy. 2020;23:203–10.

Article  PubMed  Google Scholar 

Akar HH, Patıroglu T, Hershfield M, van der Burg M. Combined immunodeficiencies: twenty years experience from a single center in Turkey. Cent Eur J Immunol. 2016;41:107–15.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Dimitrova D, Rose JJ, Uzel G, Cohen JI, Rao KV, Bleesing JJ, et al. Successful Bone Marrow Transplantation for XMEN: Hemorrhagic Risk Uncovered. J Clin Immunol. 2019;39:1–3.

Article  PubMed  Google Scholar 

Klinken E, Gray PA, Pillay B, Worley L, Edwards ESJ, Edwards ESJ, et al. Diversity of XMEN Disease: Description of 2 Novel Variants and Analysis of the Lymphocyte Phenotype. J Clin Immunol. 2020;40:299–309.

Article  CAS  PubMed  Google Scholar 

Kauskot A, Mallebranche C, Bruneel A, Fenaille F, Solarz J, Viellard T, et al. MAGT1 deficiency in XMEN disease is associated with severe platelet dysfunction and impaired platelet glycoprotein N-glycosylation. J Thromb Haemost. 2023;21:3268–78.

Dhalla F, Sarah MS, Sadler R, Chaigne-Delalande B, Sadaoka T, Soilleux E, et al. Identification of a novel mutation in MAGT1 and progressive multifocal leucoencephalopathy in a 58-year-old man with XMEN disease. J Clin Immunol. 2015;35:112–8.

Article  PubMed  Google Scholar 

Patiroglu T, Akar HH, Akar HH, Gilmour K, Unal E, Ozdemir MA, et al. A case of XMEN syndrome presented with severe auto-immune disorders mimicking autoimmune lymphoproliferative disease. Clin Immunol. 2015;159:58–62.

Article  CAS  PubMed  Google Scholar 

Qiao Y, Mondal K, Trapani V, Wen J, Carpenter G, Wildin R, et al. Variant ATRX Syndrome with Dysfunction of ATRX and MAGT1 Genes. Hum Mutat. 2014;35:58–62.

Article  CAS  PubMed  Google Scholar 

Brigida I, Chiriaco M, Di Cesare S, Cittaro D, Di Matteo G, Giannelli S, et al. Large deletion of MAGT1 gene in a patient with classic kaposi sarcoma, CD4 lymphopenia, and EBV infection. J Clin Immunol. 2017;37:32–5.

Article  PubMed  Google Scholar 

He TY, Xia Y, Li CG, Li CR, Qi ZX. [X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia: report of a family and literature review]. Yang J Zhonghua Er Ke Za Zhi. 2018;56:48–52.

CAS  PubMed  Google Scholar 

Hoyos-Bachiloglu R, Concha S, Sepúlveda P, Campos R, Perez-Mateluna G, King A, et al. The many faces of XMEN disease, report of two patients with novel mutations. J Clin Immunol. 2020;40:415–7.

Article  PubMed  Google Scholar 

Mohsin N, Jabbour AJ, Nghiem P. 33904 Early onset Merkel cell carcinoma in patients with XMEN disease. J Amer Acad Dermatol. 2022;87:47.

Article  Google Scholar 

Moshin N, Hunt D, Jabbour AJ, Nghiem P, Freemam AF, Bergerson JRE, et al. Early-onset merkel cell carcinoma is associated with germline defects in DNA repair genes and a rare immunodeficiency. J Investig Dermatol. 2022;142:2839.

Article  Google Scholar 

Reynolds C, Stein C, Atkinson T, Hurst A, Kimberlin D. P267 XMEN disease: an unexpected presentation of a rare primary immunodeficiency. Ann Allergy Asthma Immunol. 2017;119:S67–8.

Article  Google Scholar 

Mukda E, Trachoo O, Pasomsub E, Tiyasirichokchai R, Iemwimangsa N, Sosothikul D, et al. Exome sequencing for simultaneous mutation screening in children with hemophagocytic lymphohistiocytosis. Int J Hematol. 2017;106:282–90.

Article  CAS  PubMed  Google Scholar 

Verdugo CA, King AV. XMEN: MAGT1 Mutation Associated Immunodeficency. Case report of an atypical presentation. J Clin Immunol. 2019;39:S33–S33.

Google Scholar 

Freeman C, Bauer C, Miller H, Wright B, Rukasin C, Badia P. M278 XMEN disease: an unexpected presentation with an unexampled mutation. Ann Allergy Asthma Immunol. 2020;125:S92–3.

Article  Google Scholar 

Gadoury-Levesque V, Dong L, Su R, Chen J, Zhang K, Risma KA, et al. Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders. Blood Adv. 2020;4:2578–94.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ochoa S, Toro C, Wolfe L, Durkee-Shock J, Lenardo M, Binder K, et al. Expanding The Phenotype Of XMEN disease: MAGT1 deficiency presenting with neurodegenerative symptoms. J Clin Immunol. 2020;40:S76–7.

Google Scholar 

Kruijt N, van den Bersselaar LR, Kamsteeg EJ, Verbeeck W, Snoeck MMJ, Everaerd DS, et al. The etiology of rhabdomyolysis: an interaction between genetic susceptibility and external triggers. Eur J Neurol. 2021;28:647–59.

Article  CAS  PubMed  Google Scholar 

Jalil M, Rowane M, Rajan J, Hostoffer R. Successful Anti-SARS-CoV-2 Spike Protein Antibody Response to Vaccination in MAGT1 Deficiency. Allergy Rhinol. 2021;12:21526567211056240.