X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia

X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency. People with this condition experience problems with their immune system, which makes them more likely to have infections. Recurrent sinopulmonary and viral infections have been observed, and many individuals have persistent elevated levels of Epstein-Barr virus (EBV) in their blood. In addition to these infections, laboratory tests often reveal an inverted CD4:CD8 T-cell ratio and reduced levels of antibodies, a condition known as hypogammaglobulinemia. These findings help doctors understand the impact on both the cellular and humoral sides of the immune system. The condition is part of a group of disorders linked to abnormalities in the MAGT1 gene, which is important for proper immune function.

People with this condition commonly experience recurrent lung and sinus infections, as well as viral infections due to their weakened immune system. Persistent high levels of Epstein-Barr virus have been noted and immune tests often show an abnormal balance of T-cells and low levels of antibodies.

The condition is caused by changes in the MAGT1 gene, which plays a critical role in the immune system. It is inherited in an X-linked pattern, meaning that the gene change is located on the X chromosome. This genetic alteration impacts the body’s normal immune response and increases the risk of infections, particularly those associated with the Epstein-Barr virus.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.