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

Orpha code: 317476OMIM code: 300853

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.

Disease data
Classification

Disease

Synonyms
CID due to MAGT1 deficiency
CID z powodu deficytu MAGT1
XMEN
Złożony Niedobór odporności z powodu deficytu MAGT1
Combined immunodeficiency due to MAGT1 deficiency
XMEN
ORPHA code
317476
OMIM code
300853
ICD10 code
D81.8
ICD11 code
-

No additional description.

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