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

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

Journal of clinical immunology, 2020-02, Vol.40 (2), p.299-309 [Revista revisada por pares]

New York: Springer US

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Título:
Diversity of XMEN Disease: Description of 2 Novel Variants and Analysis of the Lymphocyte Phenotype
Autor: 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
Materias: 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 ; Vasculitis
Es parte de: Journal of clinical immunology, 2020-02, Vol.40 (2), p.299-309
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SourceType-Scholarly Journals-1
ObjectType-Feature-2
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Descripción: 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 classical features of XMEN disease and another who presented with a novel phenotype including probable CNS vasculitis, HHV-8 negative multicentric Castelman disease and severe molluscum contagiosum, thus highlighting the clinical diversity that may be seen in this condition. Peripheral blood immunophenotyping of these 2 patients, together with an additional 4 XMEN patients, revealed reduced NKG2D expression, impaired CD28 expression on CD8 + T cells, CD4 + T cell lymphopenia, an inverted CD4:CD8 ratio and decreased memory B cells. In addition, we showed for the first time alterations to the CD8 + T cell memory compartment, reduced CD56 hi NK cells, MAIT and iNKT cells, as well as compromised differentiation of naïve CD4 + T cells into IL-21-producing Tfh-type cells in vitro. Both patients were treated with supplemental magnesium with limited benefit. However, one patient has undergone allogeneic haematopoietic stem cell transplant, with full donor chimerism and immune reconstitution. These results expand our understanding of the clinical and immunological phenotype in XMEN disease, adding to the current literature, which we further discuss here.
Editor: New York: Springer US
Idioma: Inglés

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

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

New York: Springer US

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