This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia (XMEN) is a rare inherited disorder that affects the immune system. 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).
XMEN is caused by mutations in the MAGT1 gene, that controls how magnesium gets in and out of the body’s cells. 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. Treatment for XMEN may include magnesium supplements, chemotherapy for lymphoma, and possible stem cell transplant. Because XMEN has only been diagnosed in a few patients, the long-term outlook for males with XMEN is unknown.
For more information, visit GARD.