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

Información en español Title

Other Names:

XMEN; Immunodeficiency, X-linked, with magnesium defect, epstein-barr virus infection, and neoplasia; CID due to MAGT1 deficiency; XMEN; Immunodeficiency, X-linked, with magnesium defect, epstein-barr virus infection, and neoplasia; CID due to MAGT1 deficiency; Combined immunodeficiency due to MAGT1 deficiency; X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia See More

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Immune System Diseases

Summary 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 (l ymphoma).^[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]

Last updated: 1/9/2019

Symptoms 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]

Last updated: 1/9/2019

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.

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Medical Terms	Other Names	Learn More: HPO ID
Percent of people who have these symptoms is not available through HPO
Decreased proportion of CD4-positive T cells		0005407
Decreased T cell activation		0005419
Immunodeficiency	Decreased immune function	0002721
Lymphoma	Cancer of lymphatic system	0002665
Recurrent viral infections		0004429
X-linked inheritance		0001417

Showing of 6 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 12/1/2019

Cause 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.

Last updated: 1/9/2019

Inheritance Inheritance

The MAGT1 gene is located on the X-chromosome. Therefore, X-linked immunodeficiency deficiency with magnesium deficiency, Epstein-Barr virus infection and neoplasia (XMEN) is inherited in an X-linked recessive pattern.^[1] In males (who have only one X chromosome), one mutated copy of the MAGT1 gene in each cell is enough to cause XMEN. In females (who have two X chromosomes), a mutation needs to occur in both copies of the MAGT1 gene to cause the disorder. Because it is unlikely that females will have two mutated copies of this gene, XMEN, like other X-linked recessive disorders, affects males much more frequently than females. Females who have a mutation in one copy of the MAGT1 gene are called carriers. Most carriers of X-linked disorders have no signs or symptoms.

A female who carries one MAGT1 gene mutation has a 50% or 1 in 2 chance of having a son with XMEN. A male with XMEN cannot pass on the disorder to his sons, but all of his daughters will be carriers for XMEN.^[1]

Last updated: 1/9/2019

Diagnosis 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]

Last updated: 1/9/2019

Treatment 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]

Last updated: 1/9/2019

Prognosis Prognosis

Because so few people have been diagnosed with this disorder, the long-term outlook for males with X-linked immunodeficiency with magnesium deficiency, Epstein-Barr virus infection and neoplasia (XMEN) is unknown. Males with XMEN have normal growth and intelligence. At least one patient was diagnosed with XMEN in his 50s.^[2]^[4]

Last updated: 1/9/2019

Statistics Statistics

X-linked immunodeficiency deficiency with magnesium deficiency, Epstein-Barr virus infection and neoplasia (XMEN) is a recently described disorder and has been reported in very few patients. The exact prevalence is unknown.^[4]

Last updated: 1/9/2019

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Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Organizations 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

Immune Deficiency Foundation
110 West Road, Suite 300
Towson, MD 21204
Toll-free: 1-800-296-4433
Fax: +1-410-321-9165
E-mail: https://www.primaryimmune.org/services/ask-idf/
Website: https://www.primaryimmune.org/
Jeffrey Modell Foundation (JMF)
780 Third Ave
New York, NY 10017
Fax: 212-764-4180
E-mail: info@jmfworld.org
Website: http://www.info4pi.org/
JMF is a global patient organization devoted to early and precise diagnosis, meaningful treatments, and ultimately, cures - through clinical and basic research, physician education, patient support, advocacy, public awareness and newborn screening.
Leukemia and Lymphoma Society
3 International Drive, Suite 200
Rye Brook, NY 10573
Toll-free: 1-(800) 955-4572 (patients and families)
Telephone: 1-(888) 557-7177 (general)
E-mail: https://www.lls.org/content/contact-us
Website: https://www.lls.org/

Do you know of an organization? We want to hear from you.

Learn More 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.

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References References

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.
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.
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.
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.