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

info · Genetic

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).

Signs and symptoms

Persistent EBV viremia
Decreased CD69 upregulation upon TCR activation
Decreased total CD4+ T cell proportion
Mediastinal lymphadenopathy
B-cell lymphoma
Lymphadenopathy
Recurrent bronchitis
Splenomegaly
Lymphoproliferative disorder
Persistent CMV viremia

Also known as: XMEN