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ID | DOID:0080319 |
Name | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia |
Definition | A T cell deficiency that is characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation in males and has_material_basis_in X-linked inheritance of mutations in the gene encoding magnesium transporter-1 (MAGT1). https://ghr.nlm.nih.gov/condition/x-linked-immunodeficiency-with-magnesium-defect-epstein-barr-virus-infection-and-neoplasia#genes, https://meshb.nlm.nih.gov/record/ui?ui=C536288, https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=317476 |
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Synonyms |
XMEN [EXACT] |
Parent Relationships |