Associated Papers
EBV-associated smooth muscle tumour: a clinicopathological and genetic study of nine cases revealing heterogeneous immune statuses and novel pathogenic mutations.
Jing W et al.
Histopathology, 2025
HLH and Recurrent EBV Lymphoma as the presenting manifestation of MAGT1 Deficiency: A Systematic Review of the Expanding Disease Spectrum.
Golloshi K et al.
Journal of Clinical Immunology, 2024
Adult-onset neurodegeneration in XMEN disease.
Benavides D et al.
Journal of Neuroimmunology, 2024
MAGT1 deficiency in XMEN disease is associated with severe platelet dysfunction and impaired platelet glycoprotein N-glycosylation.
Kauskot A et al.
Journal of Thrombosis and Haemostasis : Jth, 2023
Functional classification of DDOST variants of uncertain clinical significance in congenital disorders of glycosylation.
Kas SM et al.
Scientific Reports, 2023
37848450 (PubMed )
Supplement: 41598_2023_42178_MOESM5_ESM.xlsx › OST_complex_clinvar_result
Diversity of XMEN Disease: Description of 2 Novel Variants and Analysis of the Lymphocyte Phenotype.
Klinken EM et al.
Journal of Clinical Immunology, 2020
Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype.
Blommaert E et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
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