Diversity of XMEN Disease: Description of 2 Novel Variants and Analysis of the Lymphocyte Phenotype

Variants in MAGT1 have been identified as the cause of an immune deficiency termed X-linked immunodeficiency with magnesium defect, Epstein-Barr virus (EBV) infection and neoplasia (XMEN) disease. Here, we describe 2 cases of XMEN disease due to novel mutations in MAGT1 , one of whom presented with...

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Veröffentlicht in:	Journal of clinical immunology 2020-02, Vol.40 (2), p.299-309
Hauptverfasser:	Klinken, Elizabeth M., Gray, Paul E., Pillay, Bethany, Worley, Lisa, Edwards, Emily S. J., Payne, Kathryn, Bennetts, Bruce, Hung, Dorothy, Wood, Ben A., Chan, Jonathan J., Marshall, Glenn M., Mitchell, Richard, Uzel, Gulbu, Ma, Cindy S., Tangye, Stuart G., McLean-Tooke, Andrew
Format:	Artikel
Sprache:	eng
Schlagworte:	Biomedical and Life Sciences Biomedicine CD28 antigen CD4 antigen CD8 antigen Cell differentiation Chimerism Epstein-Barr virus Genotype & phenotype Hematopoietic stem cells Immune reconstitution Immunodeficiency Immunological memory Immunology Infectious Diseases Interleukin 21 Internal Medicine Lymphocytes B Lymphocytes T Lymphopenia Magnesium Medical Microbiology Memory cells Molluscum contagiosum NKG2 antigen Original Article Peripheral blood Phenotypes Stem cell transplantation Vasculitis
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