XMEN
MCID: IMM026
MIFTS: 45

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 57 25 29 6
Xmen 57 12 25 59 75
Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia 57 75 13 40
X-Linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia 12 25 15
X-Linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia 59 73
Combined Immunodeficiency Due to Magt1 Deficiency 59
Cid Due to Magt1 Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
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:

32
immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia:
Inheritance x-linked inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 300853
Disease Ontology 12 DOID:0080319
Orphanet 59 ORPHA317476
ICD10 via Orphanet 34 D81.8
MedGen 42 C3275445
MeSH 44 D008231
UMLS 73 C3275445

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

Genetics Home Reference : 25 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.

MalaCards based summary : Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia, also known as xmen, is related to viral infectious disease and x-linked magnesium deficiency with epstein-barr virus infection and neoplasia. 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 Human cytomegalovirus infection. Affiliated tissues include t cells, b cells 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).

OMIM : 57 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 : 75 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 : 76 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...

Graphical network of the top 20 diseases related to Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia:



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

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

Clinical features from OMIM:

300853

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

32
# Description HPO Frequency HPO Source Accession
1 immunodeficiency 32 HP:0002721
2 lymphoma 32 HP:0002665
3 recurrent viral infections 32 HP:0004429
4 decreased t cell activation 32 HP:0005419
5 decreased proportion of cd4-positive t cells 32 HP:0005407

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.73 CTLA4 IFNB1 IL7 LRBA MAGT1 NLRP3
2 immune system MP:0005387 9.4 CTLA4 IFNB1 IL7 LRBA MAGT1 NLRP3

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 29 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:

41
T Cells, B Cells, 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 )
2018
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
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia disease: a combined immune deficiency with magnesium defect. ( 25313976 )
2014

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 20)
# 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 GRCh37 Chromosome X, 77086301: 77086301
11 MAGT1 NM_032121.5(MAGT1): c.1088+1G> A single nucleotide variant Uncertain significance 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 GRCh37 Chromosome X, 77131070: 77131070
16 MAGT1 NM_032121.5(MAGT1): c.223C> T (p.Gln75Ter) single nucleotide variant Pathogenic 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

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...

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 GO:0005783 9.1 LRBA MAGT1 NLRP3 TLR3 TMEM173 UNC93B1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.85 IFNB1 NLRP3 SRY STAT1 TLR3 TMEM173
2 innate immune response GO:0045087 9.81 NLRP3 TLR3 TMEM173 UNC93B1
3 immune system process GO:0002376 9.65 CTLA4 NLRP3 TLR3 TMEM173 UNC93B1
4 defense response GO:0006952 9.61 IFNB1 NLRP3 TLR3
5 positive regulation of type I interferon production GO:0032481 9.49 TLR3 TMEM173
6 response to exogenous dsRNA GO:0043330 9.48 IFNB1 TLR3
7 positive regulation of defense response to virus by host GO:0002230 9.46 STAT1 TMEM173
8 defense response to virus GO:0051607 9.43 IFNB1 NLRP3 STAT1 TLR3 TMEM173 UNC93B1
9 positive regulation of chemokine production GO:0032722 9.4 IL7 TLR3
10 cellular response to exogenous dsRNA GO:0071360 9.33 IFNB1 TLR3 TMEM173
11 toll-like receptor 3 signaling pathway GO:0034138 9.32 TLR3 UNC93B1
12 cellular response to interferon-beta GO:0035458 8.92 IFNB1 STAT1 TLR3 TMEM173

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 cytokine receptor binding GO:0005126 8.62 IFNB1 IL7

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

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11 DGIdb
17 ExPASy
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74 UMLS via Orphanet
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