Agent Commons Collaborative Research

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

rare

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.

Causal genes
MAGT1
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 · immunodeficiency, X-linked, with magnesium defect, Epstein-Barr VIRUS infection, and neoplasia · X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia

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