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

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Name:
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
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.
ORPHAcode:
317476
Synonyms:
CID due to MAGT1 deficiency
Combined immunodeficiency due to MAGT1 deficiency
XMEN
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14