Overview
XMEN disease stands for X-linked immunodeficiency with magnesium defect, Epstein-Barr virus (EBV) infection, and neoplasia. It is a rare inherited immune system disorder caused by mutations in the MAGT1 gene on the X chromosome. Because of how it is inherited, XMEN disease primarily affects males. The MAGT1 gene provides instructions for making a protein that helps transport magnesium into cells, particularly immune cells called T cells. When this protein does not work properly, T cells cannot function normally. This leads to a weakened immune system, making affected individuals highly susceptible to infections, especially chronic Epstein-Barr virus (EBV) infection. Over time, the persistent EBV infection and immune dysfunction significantly raise the risk of developing lymphoma, a type of blood cancer. Key symptoms include recurrent infections, chronically elevated EBV levels in the blood, low CD4+ T cell counts, and an increased risk of EBV-related lymphoproliferative disease and lymphoma. Some patients also experience other signs of immune deficiency such as ear infections, sinus infections, and pneumonia. Treatment currently focuses on managing infections, monitoring for cancer, and in some cases, magnesium supplementation or hematopoietic stem cell transplantation (bone marrow transplant), which is the only potentially curative option available. Research into this condition is still evolving, and management requires close collaboration with immunology specialists.
Also known as:
Key symptoms:
Frequent and recurrent infectionsChronic Epstein-Barr virus (EBV) infectionSwollen lymph nodes (lymphadenopathy)Enlarged spleen (splenomegaly)Low CD4+ T cell countsIncreased risk of lymphoma (blood cancer)Ear infectionsSinus infectionsPneumoniaFatigue and low energyAbnormal lymph tissue growth (lymphoproliferative disease)Poor immune response to vaccinesEnlarged liver
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Childhood
Begins in childhood, roughly ages 1 to 12
FDA & Trial Timeline
1 eventStrataGraft: FDA approved
Treatment of adults with thermal burns containing intact dermal elements for which surgical intervention is clinically indicated (deep partial-thickness burns)
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableStrataGraft
Treatment of adults with thermal burns containing intact dermal elements for which surgical intervention is clinically indicated (deep partial-thickness burns)
Clinical Trials
View all trials with filters →No actively recruiting trials found for XMEN at this time.
New trials open frequently. Follow this disease to get notified.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to XMEN.
Community
No community posts yet. Be the first to share your experience with XMEN.
Start the conversation →Latest news about XMEN
1 articlesCaregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What is my child's current EBV viral load, and how often should it be monitored?,Would magnesium supplementation be helpful in our case, and what dose is recommended?,Should we consider immunoglobulin replacement therapy to prevent infections?,How often should we screen for lymphoma, and what tests are involved?,Is bone marrow transplant an option for us, and what are the risks and benefits?,Are there any clinical trials or new treatments being studied for XMEN disease?,What vaccines are safe for my child, and which ones should be avoided?
Common questions about XMEN
What is XMEN?
XMEN disease stands for X-linked immunodeficiency with magnesium defect, Epstein-Barr virus (EBV) infection, and neoplasia. It is a rare inherited immune system disorder caused by mutations in the MAGT1 gene on the X chromosome. Because of how it is inherited, XMEN disease primarily affects males. The MAGT1 gene provides instructions for making a protein that helps transport magnesium into cells, particularly immune cells called T cells. When this protein does not work properly, T cells cannot function normally. This leads to a weakened immune system, making affected individuals highly suscep
How is XMEN inherited?
XMEN follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does XMEN typically begin?
Typical onset of XMEN is childhood. Age of onset can vary across affected individuals.
Which specialists treat XMEN?
1 specialists and care centers treating XMEN are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.
What treatment and support options exist for XMEN?
1 patient support program are currently tracked on UniteRare for XMEN. See the treatments and support programs sections for copay assistance, eligibility, and contact details.