MAGT1 Gene Mutation is Associated with Myositis and CD127 Expression Downregulation
Author:
Funder
Shanghai Municipal Science and Technology Major Project
Publisher
Springer Science and Business Media LLC
Subject
Immunology,Immunology and Allergy
Link
https://link.springer.com/content/pdf/10.1007/s10875-022-01384-5.pdf
Reference5 articles.
1. 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.
2. 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.
3. 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.
4. 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.
5. 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.
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1. XMEN disease caused by the novel MAGT1 p.(Trp136*) mutation may present with neuropsychiatric symptoms;Journal of Neuroimmunology;2024-08
2. HLH and Recurrent EBV Lymphoma as the presenting manifestation of MAGT1 Deficiency: A Systematic Review of the Expanding Disease Spectrum;Journal of Clinical Immunology;2024-06-19
3. Revisiting the immunopathology of congenital disorders of glycosylation: an updated review;Frontiers in Immunology;2024-03-14
4. Adult-onset neurodegeneration in XMEN disease;Journal of Neuroimmunology;2024-01
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