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

Disease 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 analyses show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias.


Classification level: Disorder
  • Synonym(s):
    • CID due to MAGT1 deficiency
    • Combined immunodeficiency due to MAGT1 deficiency
    • XMEN
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Childhood, Adult, Adolescent
  • ICD-10: D81.8
  • OMIM: 300853
  • UMLS: -
  • MeSH: -
  • GARD: 10907
  • MedDRA: -

Detailed information


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