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

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
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
GARD:0010907: 
Orphanet:317476: 
SCTID:711481001: 
UMLS:C3275445: