|
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
X-linked immunodeficiency with magnesium defect, EBV infection, and neoplasia (XMEN) disease is caused by deficiency of the magnesium transporter 1 (MAGT1) gene.
|
31714901 |
2020 |
|
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
In humans, loss-of-function mutations in the <i>MAGT1</i> gene cause X-linked magnesium deficiency with Epstein-Barr virus (EBV) infection and neoplasia (XMEN), a disease that has a broad range of clinical and immunological consequences.
|
31337704 |
2019 |
|
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Immunological aspects of congenital disorders of glycosylation (CDG): a review.
|
27393411 |
2016 |
|
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
Identification of a novel mutation in MAGT1 and progressive multifocal leucoencephalopathy in a 58-year-old man with XMEN disease.
|
25504528 |
2015 |
|
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Second messenger role for Mg2+ revealed by human T-cell immunodeficiency.
|
21796205 |
2011 |
|
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Second messenger role for Mg2+ revealed by human T-cell immunodeficiency.
|
21796205 |
2011 |
|
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
|
0.730 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
|
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
|
0.730 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Immunologic Deficiency Syndromes
|
0.300 |
Biomarker
|
group |
MGD |
Cutting Edge: Imbalanced Cation Homeostasis in MAGT1-Deficient B Cells Dysregulates B Cell Development and Signaling in Mice.
|
29581357 |
2018 |
|
Combined immunodeficiency
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Loss of MAGT1 abrogates the Mg2+ flux required for T cell signaling and leads to a novel human primary immunodeficiency.
|
21983175 |
2011 |
|
MENTAL RETARDATION, X-LINKED 95
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation.
|
18455129 |
2008 |
|
Immunologic Deficiency Syndromes
|
0.300 |
Biomarker
|
group |
HPO |
|
|
|
|
Lymphoma
|
0.160 |
Biomarker
|
group |
BEFREE |
On one hand, the defective expansion of EBV-specific CD8 T cells results from mutations in genes involved in T-cell activation (such as RASGRP1, MAGT1, and ITK), DNA metabolism (CTPS1) or co-stimulatory pathways (CD70, CD27, and TNFSFR9 (also known as CD137/4-1BB)) leads to impaired elimination of proliferating EBV-infected B cells and the occurrence of lymphoma.
|
31402499 |
2019 |
|
Lymphoma
|
0.160 |
AlteredExpression
|
group |
BEFREE |
EBV control was improved by magnesium (Mg<sup>2+</sup>) supplementation in XMEN, an X-linked genetic disease associated with Mg<sup>2+</sup> deficiency, high circulating EBV levels (viral loads), and EBV-related lymphomas.
|
29248801 |
2018 |
|
Lymphoma
|
0.160 |
GeneticVariation
|
group |
BEFREE |
XMEN disease (X-linked immunodeficiency with Magnesium defect, Epstein-Barr virus infection and Neoplasia) is a novel primary immune deficiency caused by mutations in MAGT1 and characterised by chronic infection with Epstein-Barr virus (EBV), EBV-driven lymphoma, CD4 T-cell lymphopenia, and dysgammaglobulinemia [1].
|
25504528 |
2015 |
|
Lymphoma
|
0.160 |
Biomarker
|
group |
BEFREE |
There are currently exciting opportunities to rationally exploit the therapeutic targeting of IAP proteins for the treatment of leukemia and lymphoma.
|
24487414 |
2014 |
|
Lymphoma
|
0.160 |
AlteredExpression
|
group |
BEFREE |
We have recently characterized a novel PID now named "X-linked immunodeficiency with magnesium defect, EBV infection, and neoplasia" (XMEN) disease characterized by loss-of-function mutations in the gene encoding magnesium transporter 1 (MAGT1), chronic high-level EBV with increased EBV-infected B cells, and heightened susceptibility to EBV-associated lymphomas.
|
24550228 |
2014 |
|
Lymphoma
|
0.160 |
GeneticVariation
|
group |
BEFREE |
Individuals with genetic deficiencies in MAGT1 have high levels of Epstein-Barr virus (EBV) and a predisposition to lymphoma.
|
23846901 |
2013 |
|
Lymphoma
|
0.160 |
Biomarker
|
group |
HPO |
|
|
|
|
Congenital Disorders of Glycosylation
|
0.130 |
Biomarker
|
group |
BEFREE |
Hence, we delineate MAGT1-CDG as a disorder associated with two different clinical phenotypes caused by defects in glycosylation.
|
31036665 |
2019 |
|
Congenital Disorders of Glycosylation
|
0.130 |
GeneticVariation
|
group |
BEFREE |
All known neurological CDG have an autosomal recessive inheritance except for IAP-CDG, an X-linked pure mental retardation syndrome.
|
23622397 |
2013 |
|
Congenital Disorders of Glycosylation
|
0.130 |
Biomarker
|
group |
BEFREE |
Indeed, mutations in the subunit paralogs N33/Tusc3 and IAP do not yield the pleiotropic phenotypes typical for CDG type I but specifically result in nonsyndromic mental retardation, suggesting that the oxidoreductase activity of these subunits is required for glycosylation of a subset of proteins essential for brain development.
|
21614585 |
2011 |
|
Congenital Disorders of Glycosylation
|
0.130 |
CausalMutation
|
group |
CLINVAR |
|
|
|
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
X-linked immunodeficiency with magnesium defect, EBV infection, and neoplasia (XMEN) disease is caused by deficiency of the magnesium transporter 1 (MAGT1) gene.
|
31714901 |
2020 |