Associated Papers
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
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
Further Delineation of the Spectrum of XMEN Disease in Six Chinese Pediatric Patients.
Peng X et al.
Frontiers in Genetics, 2022
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
Select a paper to view details