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Disease Profile
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
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.
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Age of onset
Childhood
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
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
XMEN is caused by
Symptoms
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 |
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 |
0002848 | |
Decreased T cell activation | 0005419 | |
Immunodeficiency |
Decreased immune function
|
0002721 |
Recurrent viral infections | 0004429 | |
0001419 |
Cause
Diagnosis
Treatment
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
-
Jeffrey Modell Foundation (JMF)
780 Third Ave
New York, NY 10017
Fax: 212-764-4180
E-mail: [email protected]
Website: https://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/
Organizations Providing General Support
-
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/
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
- 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.
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