X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
Definition
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 analyzes show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias.
Also known as Cid due to MAGT1 deficiency, combined immunodeficiency due to MAGT1 deficiency, immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked recessive, X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, XMEN — per MONDO