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Data Availability
Data are available upon reasonable request to the corresponding author.
Abbreviations
- CK:
-
Creatine kinase
- CyTOF:
-
Time-of-flight mass cytometry
- EBER:
-
Epstein-Barr virus-encoded RNA
- EBV:
-
Epstein-Barr virus
- EEG:
-
Electroencephalogram
- EMG:
-
Electromyography
- FDG:
-
Fluorodeoxyglucose
- IVIG:
-
Intravenous immunoglobulin
- LEV:
-
Levetiracetam
- MAGT1:
-
Magnesium transporter protein 1
- PET-CT:
-
Positron Emission Tomography-Computed Tomography
- TCS:
-
Tonic-clonic seizures
- VPA:
-
Sodium valproate
- XMEN:
-
X-linked immunodeficiency with Magnesium defect, Epstein-Barr virus (EBV) infection, and Neoplasia
References
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(7357):471–6.
Chaigne-Delalande B, Li FY, O’Connor GM, Lukacs MJ, Jiang P, Zheng L, et al. Mg2+ regulates cytotoxic functions of NK and CD8 T cells in chronic EBV infection through NKG2D. Science. 2013;341(6142):186–91.
Ravell JC, Matsuda-Lennikov M, Chauvin SD, Zou J, Biancalana M, Deeb SJ, et al. Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease. J Clin Investig. 2020;130(1):507–22.
Blommaert E, Peanne R, Cherepanova NA, Rymen D, Staels F, Jaeken J, et al. Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype. Proc Natl Acad Sci USA. 2019;116(20):9865–70.
Chauvin SD, Price S, Zou J, Hunsberger S, Brofferio A, Matthews H, et al. A double-blind, placebo-controlled, crossover study of magnesium supplementation in patients with XMEN disease. J Clin Immunol. 2022;42(1):108–18.
Acknowledgements
We would like to thank all the participants for their cooperation in this study.
Funding
This study was supported by Shanghai Municipal Science and Technology Major Project (No.2018SHZDZX01) and ZJLab.
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Contributions
S.C. and X.W. performed experiments, analyzed results, and drafted the manuscript; X.W., C.S., C.B.Z., and J.L. were responsible for data collection and interpretation; J.L. designed the study and revised the manuscript.
Corresponding author
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This study was approved by the Ethics Committee of Huashan Hospital Fudan University.
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Written informed consent was signed by each participant before inclusion in the study.
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Informed consent was obtained from the study subjects prior to publication.
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The authors declare no conmpeting interests.
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Chen, S., Wang, X., Sun, C. et al. MAGT1 Gene Mutation is Associated with Myositis and CD127 Expression Downregulation. J Clin Immunol 43, 315–318 (2023). https://doi.org/10.1007/s10875-022-01384-5
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DOI: https://doi.org/10.1007/s10875-022-01384-5