How are changes in the MAGT1 gene related to health conditions?
At least five MAGT1 gene mutations that cause X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (typically known by the acronym XMEN) have been identified. XMEN is a disorder that affects the immune system in males. It involves chronic EBV infection and an increased risk of a cancer of immune system cells called lymphoma. The word "neoplasia" in the condition name refers to these lymphomas; neoplasia is a general term meaning abnormal growths of tissue.
MAGT1 gene mutations impair the magnesium transporter's function, reducing the amount of magnesium that gets into T cells. This magnesium deficiency prevents the efficient activation of the T cells to target EBV and other infections. Uncontrolled EBV infection increases the likelihood of developing lymphoma. Impaired production of CD4+ T cells resulting from abnormal magnesium transport likely accounts for the deficiency of this type of T cell in individuals with XMEN, contributing to the decreased ability to prevent infection and illness.