Mondo Description X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyses show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias.
Uniprot Description A disease characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation.
Disease Ontology Description A T cell deficiency that is characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation in males and has_material_basis_in X-linked inheritance of mutations in the gene encoding magnesium transporter-1 (MAGT1).
Mondo Term and Equivalent IDs
MONDO:0010455: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia