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ORPHA:2566

Chronic Epstein-Barr virus infection syndrome

low confidenceDisorder

Also known as: CAEBV syndrome · Chronic EBV infection syndrome

Publications

10,261

Trials

0

Interventional, condition-specific

Researchers

88

Distinct authors in sample

Gene link

IRF8

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Chronic Epstein-Barr virus infection syndrome is a rare infectious disease characterized by familial, primary, chronic Epstein-Barr virus infection which typically manifests with persistent mononucleosis-like signs and symptoms, in the absence of secondary immunodeficiency.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (7)

IMD32B · IRF8 deficiency, autosomal recessive · chronic EBV infection syndrome · chronic Epstein-Barr virus infection syndrome · immunodeficiency 32B · immunodeficiency 32B, monocyte, Dendritic cell, and natural Killer cell deficiency, autosomal recessive · monocyte and dendritic cell deficiency, autosomal 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.”

3/6 stages with a signal

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Strong — IRF8

  2. LiteraturePresent

    10,261 matched papers (8,161 in last 10 years) Source

  3. Phenotype characterisedPresent

    22 HPO annotations (e.g. Bronchiectasis; Hepatomegaly; Decreased total monocyte count) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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 (IRF8).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

22

Associated phenotypes · MONDO:0009194

  • Bronchiectasis
  • Hepatomegaly
  • Decreased total monocyte count
  • Pneumonia
  • Granulocytic hyperplasia

Showing 5 of 22 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

6

Drugs / clinical candidates · MONDO_0009194

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

10,261

10,261 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

10,261 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

8,161 in the last 10 years · low confidence

Phrase hits: 12 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

88

Distinct author names in 12 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Li L3 papers · 2023

    BGI-Wuhan Clinical Laboratory, BGI-Shenzhen, 430074, Wuhan, China.

    Papers in Europe PMC
  2. 02
    Liu Y2 papers · 2023

    Department of Genetics, Jiangxi Maternal and Child Health Hospital, 330006, Nanchang, China.

    Papers in Europe PMC
  3. 03
    Wang L2 papers · 2025

    BGI-Wuhan Clinical Laboratory, BGI-Shenzhen, 430074, Wuhan, China.

    Papers in Europe PMC
  4. 04
    Adhikary A1 paper · 2022

    Department of Information and Communication Engineering, Noakhali Science and Technology University, Noakhali, Bangladesh.

    Papers in Europe PMC
  5. 05
    Aizawa N1 paper · 2010

    Department of Ophthalmology, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan. n.aizawa@oph.med.tohoku.ac.jp

    Papers in Europe PMC
  6. 06
    Akeno N1 paper · 2025

    Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States.

    Papers in Europe PMC
  7. 07
    Alomar P1 paper · 1989
    Papers in Europe PMC
  8. 08
    Baratelli E1 paper · 1990
    Papers in Europe PMC
  9. 09
    Broggini M1 paper · 1990
    Papers in Europe PMC
  10. 10
    Buchwald D1 paper · 1988

    Department of Medicine, Brigham and Women's Hospital, Boston 02115.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 12 · after dedupe 12 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 12 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (12)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Chronic Epstein-Barr virus infection syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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.

("Chronic Epstein-Barr virus infection syndrome" OR "CAEBV syndrome" OR "Chronic EBV infection syndrome" OR "IMD32B" OR "IRF8 deficiency, autosomal recessive" OR "immunodeficiency 32B" OR "immunodeficiency 32B, monocyte, Dendritic cell, and natural Killer cell deficiency, autosomal recessive" OR "monocyte and dendritic cell deficiency, autosomal recessive") OR ("IRF8" OR "IRF8 syndrome" OR "IRF8-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Chronic Epstein-Barr virus infection syndrome" OR "CAEBV syndrome" OR "Chronic EBV infection syndrome" OR "IMD32B" OR "IRF8 deficiency, autosomal recessive" OR "immunodeficiency 32B" OR "immunodeficiency 32B, monocyte, Dendritic cell, and natural Killer cell deficiency, autosomal recessive" OR "monocyte and dendritic cell deficiency, autosomal recessive"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (10261) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T20:32:10.270Z