XMEN Disease-A rare condition
This is the case study of Ethan (3yrs old) who is only the 14th-known case of this type of immune disorder in the world. His older brother Lucas, 8, is the 15th known case. Hear about their journey at C.S. Mott Children's Hospital. ABOUT THE DISEASE: XMEN disease has revealed a newly found role for free intracellular magnesium in the immune system. Magnesium ion (Mg2+) is one of the most abundant divalent cations required for many pivotal physiological processes of the body. The majority of the total Mg2+ content of the body is either bound tightly with the nucleotides or with the proteins playing crucial role in energy production, DNA replication, gene transcription and protein synthesis. Less than 5% of the intracellular Mg2+ exists in the free or ionized state for which magnesium transporter 1 (MAGT1) works as a critical regulator. Loss-of-function due to mutations in the gene encoding MAGT1 cause XMEN disease, a mild form of combined immune deficiency (CID). This rare disease has brought to light the novel and fascinating functions of free intracellular Mg2+ in the immune system. Intracellular Mg2+ supports the immune system in the cytolytic control of EBV infection. As a result, XMEN patients have high levels of EBV(Epstein–Barr virus) and an increased number of EBV-infected B cells in the blood. XMEN disease is also associated with an increased susceptibility to EBV-driven lymphoproliferative diseases. Read more at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4306042/
