Rare Endocrinology News

Disease Profile

X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Childhood

ageofonset-childhood.svg

ICD-10

D81.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

no.svg

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

no.svg

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

no.svg

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

no.svg

Not applicable

no.svg

Other names (AKA)

XMEN; Immunodeficiency, X-linked, with magnesium defect, epstein-barr virus infection, and neoplasia; CID due to MAGT1 deficiency;

Categories

Immune System Diseases

Summary

X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia (XMEN) is a rare inherited disorder that affects the immune system.[1][2][3] 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).[1]

XMEN is caused by mutations in the MAGT1 gene, that controls how magnesium gets in and out of the body’s cells.[4] 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.[2][3] Treatment for XMEN may include magnesium supplements, chemotherapy for lymphoma, and possible stem cell transplant.[2][3] Because XMEN has only been diagnosed in a few patients, the long-term outlook for males with XMEN is unknown.[2]

Symptoms

The symptoms of X-linked immunodeficiency with magnesium deficiency, Epstein-Barr virus infection and neoplasia (XMEN) vary from patient to patient and have appeared from ages 3-45 years.[2] In childhood, some males with XMEN have frequent sinus, ear and lung infections, enlarged spleens and a weakened response to some vaccines. By adulthood, males with XMEN develop excessive growth of lymph cells (lymphoproliferative disease), and may develop cancer of the lymph system (lymphoma).[2] Laboratory findings of males with XMEN include increased levels of Epstein Barr virus (EBV) in the blood, low levels of one type of immune cell (CD4 cells), and increased levels of EBV-infected immune cells (B cells). Intelligence and growth is reported as normal in males with XMEN.[2][4]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
1%-4% of people have these symptoms
Autoimmune thrombocytopenia
0001973
B-cell lymphoma
0012191
Bronchiectasis
Permanent enlargement of the airways of the lungs
0002110
Chronic active Epstein-Barr virus infection
0032204
Decreased CD69 upregulation upon TCR activation
0031268
Decreased proportion of CD4-positive helper T cells
0005407
Hodgkin lymphoma
0012189
Juvenile onset
Signs and symptoms begin before 15 years of age
0003621
Lymphoproliferative disorder
0005523
Mediastinal lymphadenopathy
Swollen lymph nodes in center of chest
0100721
Persistent CMV viremia
0032247
Persistent EBV viremia
0020072
Recurrent bronchitis
0002837
Recurrent otitis media
Recurrent middle ear infection
0000403
Recurrent sinusitis
0011108
Severe varicella zoster infection
0032170
Splenomegaly
Increased spleen size
0001744
Young adult onset
0011462
Percent of people who have these symptoms is not available through HPO
Decreased specific anti-polysaccharide antibody level
0002848
Decreased T cell activation
0005419
Immunodeficiency
Decreased immune function
0002721
Recurrent viral infections
0004429
X-linked recessive inheritance
0001419

Cause

X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia (XMEN) is caused by mutations in the MAGT1 gene. This gene normally makes a protein that is responsible for moving magnesium into immune cells known as T cells. Magnesium is important for helping T cells fight infection.[1][2][3] When the MAGT1 gene doesn't work correctly, it can affect the body's ability to respond to infection.

Diagnosis

The diagnosis of X-linked immunodeficiency with magnesium deficiency, Epstein-Barr virus infection and neoplasia (XMEN) is made based on the symptoms. Laboratory testing to look for increased levels of Epstein-Barr virus and low levels of certain immune cells (T-cells) can help. Genetic testing can also be helpful to confirm that diagnosis.[4]

Treatment

There have been very few patients reported with X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia (XMEN), and so there is limited information on treatment. Oral magnesium supplements have helped some patients control the Epstein-Barr virus infection. Patients who develop lymphoproliferative disease or lymphoma are treated with chemotherapy. Some patients may benefit from stem cell transplant.[2][3][4]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Organizations Providing General Support

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

      • Genetics Home Reference (GHR) contains information on X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia. This website is maintained by the National Library of Medicine.

        In-Depth Information

        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

          References

          1. X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia. Genetics Home Reference (GHR). Updated 2014; https://ghr.nlm.nih.gov/condition/x-linked-immunodeficiency-with-magnesium-defect-epstein-barr-virus-infection-and-neoplasia.
          2. Ravell J, Chaigne-Delalande B, Lenardo M. X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia disease: a combined immune deficiency with magnesium defect. Curr Opin Pediatr. Dec 2014; 26(6):713-9. https://www.ncbi.nlm.nih.gov/pubmed/25313976.
          3. Trapani V, Shomer N, Rajcan-Separovic E. The role of MAGT1 In genetic syndromes. Magnes Res. Jun 2015; 28(2):46-55. https://www.ncbi.nlm.nih.gov/pubmed/26422833.
          4. Li FY, Chaigne-Delalande B, Rao VK, Zhang Y, Matthews H, Kuijpers TT, Su H, Uzel G, Lenardo MJ. Clinical utility gene care for: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (XMEN). Eur J Hum Genet. Jun 2015; 23(6):Epub. https://www.ncbi.nlm.nih.gov/pubmed/25205404.

          Rare Endocrinology News