Details of Disease
General Information of Disease (ID: DISYHOAH)
| Disease Name | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia | |||||
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| Synonyms |
immunodeficiency, X-linked, with magnesium defect, Epstein-Barr VIRUS infection, and neoplasia; X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia; X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia; 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
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| 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.
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Molecular Interaction Atlas (MIA) of This Disease
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This Disease Is Related to 1 DTP Molecule(s)
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This Disease Is Related to 1 DOT Molecule(s)
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