XMEN
MCID: IMM026
MIFTS: 36

Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia (XMEN)

Categories: Blood diseases, Genetic diseases, Immune diseases, Infectious diseases, Rare diseases

Aliases & Classifications for Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr...

MalaCards integrated aliases for Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia:

Name: Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia 58 54 26 30 6
Xmen 58 12 54 26 60 76
Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia 58 76 13 41
X-Linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia 12 26 15
X-Linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia 54 60 74
Combined Immunodeficiency Due to Magt1 Deficiency 54 60
Cid Due to Magt1 Deficiency 54 60
X-Linked Magnesium Deficiency with Epstein-Barr Virus Infection and Neoplasia 54

Characteristics:

Orphanet epidemiological data:

60
x-linked immunodeficiency with magnesium defect, epstein-barr virus infection and neoplasia
Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: any age;

HPO:

33
immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia:
Inheritance x-linked inheritance


Classifications:

Orphanet: 60  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0080319
OMIM 58 300853
MeSH 45 D008231
ICD10 via Orphanet 35 D81.8
Orphanet 60 ORPHA317476
MedGen 43 C3275445
UMLS 74 C3275445

Summaries for Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr...

NIH Rare Diseases : 54 X-linkedimmunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia (XMEN) is a rare inherited disorder that affects the immune system. It has been reported in very few patients to date and has only been diagnosed in males. In XMEN, the number of T cells, a type of immune cell, are decreased or don�??t work right. Because there are not enough T cells, males with XMEN may have more frequent infections. In addition, they are more likely to get sick from Epstein-Barr virus (EBV), a common virus found in most people. Typically, only people with immune systems that don�??t�?? work well can develop symptoms from an EBV infection. In males with XMEN, EBV infections lead to abnormal growth of lymph cells and cancer of the lymph system (lymphoma). XMEN is caused by mutations in the MAGT1 gene, that controls how magnesium gets in and out of the body�??s cells. It is inherited in an X-linked pattern in families. XMEN is diagnosed based on the symptoms, and genetic testing for MAGT1 mutations can also be helpful. Treatment for XMEN may include magnesium supplements, chemotherapy for lymphoma, and possible stem cell transplant. Because XMEN has only been diagnosed in a few patients, the long-term outlook for males with XMEN is unknown.

MalaCards based summary : Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia, also known as xmen, is related to lrba deficiency and mycobacterium kansasii. An important gene associated with Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia is MAGT1 (Magnesium Transporter 1), and among its related pathways/superpathways are Innate Immune System and Thyroid hormone signaling pathway. Affiliated tissues include t cells, testes and bone, and related phenotypes are immunodeficiency and lymphoma

Disease Ontology : 12 A T cell deficiency that is characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation in males and has material basis in X-linked inheritance of mutations in the gene encoding magnesium transporter-1 (MAGT1).

Genetics Home Reference : 26 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (typically known by the acronym XMEN) is a disorder that affects the immune system in males. In XMEN, certain types of immune system cells called T cells are reduced in number or do not function properly. Normally these cells recognize foreign invaders, such as viruses, bacteria, and fungi, and are then turned on (activated) to attack these invaders in order to prevent infection and illness. Because males with XMEN do not have enough functional T cells, they have frequent infections, such as ear infections, sinus infections, and pneumonia.

OMIM : 58 XMEN is an X-linked immunodeficiency characterized by CD4 (186940) lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation (Li et al., 2011). (300853)

UniProtKB/Swiss-Prot : 76 Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia: A disease characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation.

Wikipedia : 77 XMEN disease is a rare genetic disorder of the immune system that illustrates the role of Mg2+ in cell... more...

Related Diseases for Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr...

Diseases related to Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 lrba deficiency 10.1 CTLA4 LRBA
2 mycobacterium kansasii 10.0 NLRP3 PLCG1
3 acute myocarditis 9.7 STAT1 TLR3

Symptoms & Phenotypes for Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr...

Human phenotypes related to Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia:

33
# Description HPO Frequency HPO Source Accession
1 immunodeficiency 33 HP:0002721
2 lymphoma 33 HP:0002665
3 decreased proportion of cd4-positive t cells 33 HP:0005407
4 recurrent viral infections 33 HP:0004429
5 decreased t cell activation 33 HP:0005419

Clinical features from OMIM:

300853

MGI Mouse Phenotypes related to Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.7 CTLA4 IL7 LRBA MAGT1 NLRP3 PLCG1
2 immune system MP:0005387 9.36 CTLA4 IL7 LRBA MAGT1 NLRP3 PLCG1

Drugs & Therapeutics for Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr...

Search Clinical Trials , NIH Clinical Center for Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia

Genetic Tests for Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr...

Genetic tests related to Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia:

# Genetic test Affiliating Genes
1 Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia 30 MAGT1

Anatomical Context for Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr...

MalaCards organs/tissues related to Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia:

42
T Cells, Testes, Bone, Bone Marrow

Publications for Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr...

Articles related to Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia:

# Title Authors Year
1
Successful Bone Marrow Transplantation for XMEN: Hemorrhagic Risk Uncovered. ( 30470981 )
2019
2
Clinical utility gene card for: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (XMEN). ( 25205404 )
2015
3
Identification of a novel mutation in MAGT1 and progressive multifocal leucoencephalopathy in a 58-year-old man with XMEN disease. ( 25504528 )
2015
4
A case of XMEN syndrome presented with severe auto-immune disorders mimicking autoimmune lymphoproliferative disease. ( 25956530 )
2015
5
XMEN disease: a new primary immunodeficiency affecting Mg2+ regulation of immunity against Epstein-Barr virus. ( 24550228 )
2014
6
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia disease: a combined immune deficiency with magnesium defect. ( 25313976 )
2014
7
Second messenger role for Mg2+ revealed by human T-cell immunodeficiency. ( 21796205 )
2011

Variations for Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr...

ClinVar genetic disease variations for Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia:

6 (show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 MAGT1 MAGT1, IVS7AS, 10-BP DEL, -6 deletion Pathogenic
2 MAGT1 NM_032121.5(MAGT1): c.409C> T (p.Arg137Ter) single nucleotide variant Pathogenic rs387906724 GRCh37 Chromosome X, 77126382: 77126382
3 MAGT1 NM_032121.5(MAGT1): c.409C> T (p.Arg137Ter) single nucleotide variant Pathogenic rs387906724 GRCh38 Chromosome X, 77870885: 77870885
4 MAGT1 NM_032121.5(MAGT1): c.112C> T (p.Arg38Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs140854076 GRCh37 Chromosome X, 77150892: 77150892
5 MAGT1 NM_032121.5(MAGT1): c.112C> T (p.Arg38Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs140854076 GRCh38 Chromosome X, 77895395: 77895395
6 MAGT1 NM_032121.5(MAGT1): c.747T> A (p.Thr249=) single nucleotide variant Benign rs61732679 GRCh37 Chromosome X, 77112251: 77112251
7 MAGT1 NM_032121.5(MAGT1): c.747T> A (p.Thr249=) single nucleotide variant Benign rs61732679 GRCh38 Chromosome X, 77856754: 77856754
8 MAGT1 NM_032121.5(MAGT1): c.67G> A (p.Val23Ile) single nucleotide variant Benign/Likely benign rs182757967 GRCh37 Chromosome X, 77150937: 77150937
9 MAGT1 NM_032121.5(MAGT1): c.67G> A (p.Val23Ile) single nucleotide variant Benign/Likely benign rs182757967 GRCh38 Chromosome X, 77895440: 77895440
10 MAGT1 NM_032121.5(MAGT1): c.1088+1G> A single nucleotide variant Uncertain significance rs1557213306 GRCh37 Chromosome X, 77086301: 77086301
11 MAGT1 NM_032121.5(MAGT1): c.1088+1G> A single nucleotide variant Uncertain significance rs1557213306 GRCh38 Chromosome X, 77830804: 77830804
12 MAGT1 NC_000023.10: g.(?_77084697)_(77131114_?)dup duplication Uncertain significance GRCh37 Chromosome X, 77084697: 77131114
13 MAGT1 NM_032121.5(MAGT1): c.58C> T (p.Arg20Trp) single nucleotide variant Uncertain significance rs370329684 GRCh37 Chromosome X, 77150946: 77150946
14 MAGT1 NM_032121.5(MAGT1): c.58C> T (p.Arg20Trp) single nucleotide variant Uncertain significance rs370329684 GRCh38 Chromosome X, 77895449: 77895449
15 MAGT1 NM_032121.5(MAGT1): c.223C> T (p.Gln75Ter) single nucleotide variant Pathogenic rs1557217723 GRCh37 Chromosome X, 77131070: 77131070
16 MAGT1 NM_032121.5(MAGT1): c.223C> T (p.Gln75Ter) single nucleotide variant Pathogenic rs1557217723 GRCh38 Chromosome X, 77875573: 77875573
17 MAGT1 NM_032121.5(MAGT1): c.444dup (p.Ala149Cysfs) duplication Pathogenic GRCh37 Chromosome X, 77126347: 77126347
18 MAGT1 NM_032121.5(MAGT1): c.444dup (p.Ala149Cysfs) duplication Pathogenic GRCh38 Chromosome X, 77870850: 77870850
19 MAGT1 NM_032121.5(MAGT1): c.65_66delAA (p.Lys22Serfs) deletion Pathogenic GRCh37 Chromosome X, 77150938: 77150939
20 MAGT1 NM_032121.5(MAGT1): c.65_66delAA (p.Lys22Serfs) deletion Pathogenic GRCh38 Chromosome X, 77895441: 77895442
21 MAGT1 NM_032121.5(MAGT1): c.938T> G (p.Leu313Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 77841305: 77841305
22 MAGT1 NM_032121.5(MAGT1): c.938T> G (p.Leu313Ter) single nucleotide variant Pathogenic GRCh37 Chromosome X, 77096802: 77096802

Expression for Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr...

Search GEO for disease gene expression data for Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia.

Pathways for Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr...

Pathways related to Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.96 CTLA4 IL7 KLRK1 MAGT1 MGAM NLRP3
2 11.2 PLCG1 SLC2A1 STAT1
3 10.65 PLCG1 STAT1
4 10.43 MAGT1 TUSC3

GO Terms for Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr...

Cellular components related to Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.63 MAGT1 STT3B TLR3 TMEM173 TUSC3 UNC93B1
2 endoplasmic reticulum GO:0005783 9.56 LRBA MAGT1 NLRP3 STT3B TLR3 TMEM173
3 oligosaccharyltransferase complex GO:0008250 8.8 MAGT1 STT3B TUSC3

Biological processes related to Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.73 CTLA4 KLRK1 NLRP3 TLR3 TMEM173 UNC93B1
2 innate immune response GO:0045087 9.72 KLRK1 NLRP3 TLR3 TMEM173 UNC93B1
3 positive regulation of defense response to virus by host GO:0002230 9.49 STAT1 TMEM173
4 positive regulation of chemokine production GO:0032722 9.48 IL7 TLR3
5 cellular response to exogenous dsRNA GO:0071360 9.46 TLR3 TMEM173
6 magnesium ion transmembrane transport GO:1903830 9.43 MAGT1 TUSC3
7 magnesium ion transport GO:0015693 9.4 MAGT1 TUSC3
8 toll-like receptor 3 signaling pathway GO:0034138 9.37 TLR3 UNC93B1
9 protein N-linked glycosylation via asparagine GO:0018279 9.33 MAGT1 STT3B TUSC3
10 cellular response to interferon-beta GO:0035458 9.13 STAT1 TLR3 TMEM173
11 defense response to virus GO:0051607 9.02 NLRP3 STAT1 TLR3 TMEM173 UNC93B1

Molecular functions related to Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 magnesium ion transmembrane transporter activity GO:0015095 8.96 MAGT1 TUSC3
2 dolichyl-diphosphooligosaccharide-protein glycotransferase activity GO:0004579 8.8 MAGT1 STT3B TUSC3

Sources for Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr...

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