XMEN Disease is the shortened version of this immune disorder’s real name. The full name of this condition is X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia. It is named for the different kinds of secondary health problems that show up in sufferers of this condition. This disorder affects males since it is an x chromosome mutation that impacts the T cells in the body. These cells are reduced and do not function properly in these patients, leading to lifelong serious secondary health issues.
Patients with XMEN disease are very susceptible to the Epstein-Barr virus (EBV). This can be the inciting incident that leads to the expression of their symptoms. Because the T-cells are not functioning correctly in these patients, exposure to EBV can lead to a cascade effect that leads to other immune-related issues like lymphoma. The most common symptoms are:
XMEN is caused by a mutation to the MAGT1 gene. This leads to problems with the gene that provides instructions for the proteins that allow certain T cells to be produced in the body. This mutation can also impact the function of the T-cells that are affected, leading to immune suppression and the characteristic infections and other health issues of these patients. More study into the exact mechanisms of this condition needs to be done to identify the exact role of the magnesium transport that is not performed correctly related to T-cells in the body.
The risk factor for this condition is having at least one parent who transfers the mutated gene to the patient. In female patients, the mutation would have to be carried over in two gene copies which is why this condition is so rare in female patients. Fathers cannot pass this gene mutation to their sons.
Autoimmune Lymphoproliferative Syndrome (ALPS)
Caspase Eight Deficiency State (CEDS)
CARD9 Deficiency And Other Syndromes Of Susceptibility To Candidiasis
Chronic Granulomatous Disease (CGD)
Common Variable Immunodeficiency (CVID)
Congenital Neutropenia Syndromes
Hyper-Immunoglobulin E Syndromes
Hyper-Immunoglobulin M Syndromes
Interferon Gamma, Interleukin 12 And Interleukin 23 Deficiencies
Leukocyte Adhesion Deficiency (LAD)
PLCG2-Associated Antibody Deficiency And Immune Dysregulation (PLAID)
Severe Combined Immunodeficiency (SCID)
STAT3 Dominant Negative Disease (STAT3DN)
STAT3 Gain-Of-Function Disease (STAT3 GOF)
Warts, Hypogammaglobulinemia, Infections, And Myelokathexis (WHIM) Syndrome
Wiskott-Aldrich Syndrome (WAS)
X-Linked Agammaglobulinemia (XLA)
X-Linked Lymphoproliferative Disease (XLP)
Immunodeficiency Disease Medications
XMEN disease is diagnosed in most cases due to acute symptoms which have caused a visit to the emergency room. These patients will also usually have chronically high levels of EBV in their blood as well as diminished thymic output, elevated B cell counts, and mild neutropenia. Blood work and genetic testing are very valuable in identifying this condition, but these diagnostics usually need to be done during the work to treat patients with serious health issues.
Since lymphoma is such a common secondary health issue associated with this condition, oncologists might be involved in the diagnosis of XMEN disease.
Prevention of this immune health issue is only possible if parents get genetic testing done to see if they are carriers for the disease. Parents can work with a genetic counsellor to get advice about the likelihood that their children will inherit the gene from them.
Treatment of these patients depends upon the severity of their associated symptoms and linked health conditions. This condition has shown a good response in some patients to hypogammaglobulinemia treatments. Antiviral treatment can also be effective in some patients.
Chemotherapy is reserved for the treatment of patients who have developed lymphoma secondary to XMEN disease. Matched third-party EBV-specific T cells can sometimes be very productive in patients whose XMEN disease was activated by exposure to the EBV virus. Hematopoietic stem cell transplants might become the recommended treatment protocol for this condition, but more study needs to be done into this treatment method. As with many other features of this condition, more study is needed since there are so few people who are diagnosed annually with this condition.