Diversity of XMEN Disease: Description of 2 Novel Variants and Analysis of the Lymphocyte Phenotype
Author:
Funder
National Health and Medical Research Council
NSW Ministry of Health
Publisher
Springer Science and Business Media LLC
Subject
Immunology,Immunology and Allergy
Link
http://link.springer.com/content/pdf/10.1007/s10875-019-00732-2.pdf
Reference24 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. 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 U S A. 2019;116(20):9865–70.
3. 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(1):32–5.
4. Dhalla F, Murray S, 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(2):112–8.
5. Dimitrova D, Rose JJ, Uzel G, Cohen JI, Rao KV, Bleesing JH, et al. Successful bone marrow transplantation for XMEN: hemorrhagic risk uncovered. J Clin Immunol. 2018.
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1. XMEN-associated Systemic EBV-positive T-cell Lymphoma of Childhood: Report of Two Cases and Literature Review;Journal of Pediatric Hematology/Oncology;2024-08-27
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. Monozygotic Twins with MAGT1 Deficiency and Epstein–Barr virus-positive Classic Hodgkin Lymphoma Receiving anti-CD30 CAR T-cell Immunotherapy: A case Report;Journal of Clinical Immunology;2024-04-05
4. Revisiting the immunopathology of congenital disorders of glycosylation: an updated review;Frontiers in Immunology;2024-03-14
5. Adult-onset neurodegeneration in XMEN disease;Journal of Neuroimmunology;2024-01
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