ORPHA:317476
XMEN
Also known as: CID due to MAGT1 deficiency · Combined immunodeficiency due to MAGT1 deficiency · X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
Query health: suspect — Only one of 2 strategies returned hits (phrase). Source fetch failed for trials.
Publications
290
Trials
—
Interventional, condition-specific
Researchers
1,252
Distinct authors in sample
Gene link
MAGT1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
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.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010455
- OMIM:300853
- UMLS:C3275445
- NCIT:C126336
Additional Mondo synonyms (3)
Cid due to MAGT1 deficiency · combined immunodeficiency due to MAGT1 deficiency · immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked recessive
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedPresent
Definitive — MAGT1
- LiteraturePresent
290 matched papers (239 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot checked
Trial fetch failed or incomplete
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (MAGT1).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
290
290 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
290 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
239 in the last 10 years · low confidence
Phrase hits: 290 · MeSH hits: 0
Who's working on it?
1,252
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Lenardo MJ12 papers · 2022
Molecular Development of the Immune System Section, Lymphocyte Molecular Genetics Unit, Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: lenardo@NIH.gov.
Papers in Europe PMC - 02Cohen JI8 papers · 2023
Laboratory of Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.
Papers in Europe PMC - 03Uzel G8 papers · 2024
Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Disease (NIAID), NIH, Bethesda, MD, USA.
Papers in Europe PMC - 04Chaigne-Delalande B7 papers · 2015
Molecular Development of the Immune System Section, Lymphocyte Molecular Genetics Unit, Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
Papers in Europe PMC - 05Marsh RA7 papers · 2023
Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio. Electronic address: Rebecca.Marsh@cchmc.org.
Papers in Europe PMC - 06Ravell JC7 papers · 2024
Molecular Development of the Immune System Section, Laboratory of Immune System Biology, NIAID, National Institutes of Health, Bethesda, Maryland 20892.
Papers in Europe PMC - 07Lenardo M6 papers · 2024
Molecular Development of the Immune System Section, Laboratory of Immunology, and Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland; email: lenardo@nih.gov.
Papers in Europe PMC - 08Münz C6 papers · 2025
Viral Immunobiology, Institute of Experimental Immunology, University of Zürich , Zürich , Switzerland.
Papers in Europe PMC - 09Jaeken J5 papers · 2023
Center for Metabolic Diseases, Department of Pediatrics, KU Leuven, 3000, Louvain, Belgium.
Papers in Europe PMC - 10Wang X5 papers · 2026
Department of Rheumatology and Immunology, Tongji Hospital, Tongji University School of Medicine, Shanghai, China.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
—
interventional trials for this specific condition
We could not load trial data for this condition right now.
Data as of 27 July 2026
low confidence
Recruiting interventional trials
From the matched ClinicalTrials.gov set
Trial data could not be loaded for this build. This is not the same as finding zero interventional trials.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"XMEN" OR "CID due to MAGT1 deficiency" OR "Combined immunodeficiency due to MAGT1 deficiency" OR "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia" OR "immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked recessive"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
(empty)
Recall-expansion terms: MAGT1
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Synonyms dropped by stoplist: XMEN
Source errors: trials: Error: HTTP 400 for https://clinicaltrials.gov/api/v2/studies?query.cond=%22XMEN%22%20OR%20%22CID%20due%20to%20MAGT1%20deficiency%22%20OR%20%22Combined%20immunodeficiency%20due%20to%20MAGT1%20deficiency%22%20OR%20%22X-linked%20immunodeficiency%20with%20magnesium%20defect%2C%20Epstein-Barr%20virus%20infection%20and%20neoplasia%22%20OR%20%22immunodeficiency%2C%20X-linked%2C%20with%20magnesium%20defect%2C%20Epstein-Barr%20virus%20infection%20and%20neoplasia%2C%20X-linked%20recessive%22%20OR%20%22MAGT1%22&format=json&pageSize=100&countTotal=true
Confidence reasoning
- Preferred label is short or not clearly distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T13:16:54.929Z