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X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia
Summary
- Synonym
-
- XMEN
- 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).
- Super Class
- X-linked recessive disease combined T cell and B cell immunodeficiency
External Links
- Disease Ontology
- DOID:0080319
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P20273 | B-cell receptor CD22 | |
| P26718 | NKG2-D type II integral membrane protein | |
| P28907 | ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 |
