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

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

Rare Disease

MONDO:0010455

Also Known As

Cid due to MAGT1 deficiencyX-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasiaXMENcombined immunodeficiency due to MAGT1 deficiencyimmunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked recessiveX-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasiaX-linked magnesium deficiency with Epstein-Barr virus infection and neoplasiaimmunodeficiency, X-linked, 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.