Visualize Submit Comment
Metadata
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
Xrefs

MIM:300853

Synonyms

XMEN [EXACT]

Parent Relationships

is_a combined T cell and B cell immunodeficiency

is_a X-linked recessive disease

Add an item to the term tracker