Living with X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
An inherited immune condition in males in which T cells don't work well, leading to frequent infections and a risk of lymphoma.
Understanding X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
T cells are reduced in number or don't work properly. Males have frequent ear, sinus, and lung infections and are vulnerable to the Epstein-Barr virus (EBV). Because T cells can't keep EBV in check, it can lead to lymphoma, a cancer of immune cells. People may not come to medical attention until lymphoma develops. It can begin from childhood to adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated ear and sinus infections
- Repeated bronchitis and respiratory infections
- Swollen lymph nodes
- Enlarged spleen
- Low platelets from autoimmunity
- Lymphoma
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include allergy and immune system specialists, cancer specialists and genetic specialists.
- 3Consider genetic testing
Changes in MAGT1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Cancer specialists (oncologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Immune Deficiency Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Blood Cancer United and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
XMEN is caused by changes in the MAGT1 gene and follows X-linked inheritance.
Also known as: cid due to magt1 deficiency; combined immunodeficiency due to magt1 deficiency; immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection and neoplasia, x-linked recessive; xmen
Patient organizations
- Blood Cancer UnitedX-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia · United States
- Jeffrey Modell FoundationX-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia.
Explore research for X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
Explore actively recruiting X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia studies with HealthSpark.
Find actively recruiting studies for X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.