Atypical Presentation in X-linked Immunodeficiency With Magnesium Defect, Epstein-Barr Virus (EBV) Infection, and Neoplasia (XMEN) Disease: A Case Report and Review of Emerging Therapies

X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (XMEN) is a rare primary immunodeficiency caused by MAGT1 mutations. These mutations impair N-linked glycosylation and magnesium-dependent signaling in T cells, disrupting immune surveillance. XMEN typically presents with chronic Epstein-Barr virus (EBV) viremia, lymphoproliferative disease, and viral infections, although phenotypic variability is increasingly recognized. A seven-year-old male presented at age five with bilateral conjunctival hemorrhages and petechiae and was found to have severe thrombocytopenia (platelet count: 4,000/µL)[…]  Genetic testing revealed a pathogenic hemizygous deletion of exons 2-10 in MAGT1, confirmed by chromosomal microarray. This deletion is consistent with XMEN disease.