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


Engelsk navn: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
Engelske synonym: CID due to MAGT1 deficiency,Combined immunodeficiency due to MAGT1 deficiency,XMEN


Definisjon

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.

Fra Orphanet

ORPHA: 317476
Klassifiseringsnivå: Disorder
ICD-10: D81.8

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Mer informasjon

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