X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
Findings
No curated finding names X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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 analyzes show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias.
Definition from the Mondo Disease Ontology (MONDO:0010455), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
24 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Autoimmune thrombocytopeniaHPOHP:0001973
- 1 of 1 reported patient
- B-cell lymphomaHPOHP:0012191
- 4 of 4 reported patients · Young adult onset
- Chronic active EBV infectionHPOHP:0032204
- 2 of 2 reported patients
- Decreased CD69 upregulation upon TCR activationHPOHP:0031268
- 2 of 2 reported patients
- Decreased total CD4+ T cell proportionHPOHP:0032218
- 3 of 3 reported patients
- Hodgkin lymphoma
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MAGT1HGNC:28880
- Definitive · ClinGen · X-linked · 2025
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · Unknown · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- Also called
- Cid due to MAGT1 deficiencycombined immunodeficiency due to MAGT1 deficiencyimmunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked recessiveXMEN