X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
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.
MONDO:0018814
non-SCID combined immunodeficiency
excluded_subClassOf
MONDO:0015131
combined immunodeficiency
is_a
Cid due to MAGT1 deficiency
exact
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
exact
X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia
related
XMEN
exact
combined immunodeficiency due to MAGT1 deficiency
exact
immunodeficiency, X-linked, with magnesium defect, Epstein-Barr VIRUS infection, and neoplasia
related
immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked recessive
exact
SPAPB17E12.11