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ORPHA:538958

EBV-induced lymphoproliferative disease due to CD70 deficiency

low confidenceDisorder

Also known as: Epstein-Barr virus-induced lymphoproliferative disease due to CD70 molecule deficiency

Publications

8,441

Trials

0

Interventional, condition-specific

Researchers

102

Distinct authors in sample

Gene link

CD70

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare primary immunodeficiency characterized by susceptibility to Epstein-Barr virus (EBV)-related disorders (B-cell lymphoproliferative disorders including Hodgkin lymphoma) as well as dysgammaglobulinemia and recurrent infections. Patients can present with recurrent fever, lymphadenopathy, , Behçet-like stomatitis, pharyngitis, tonsillitis, adenitis, and viral encephalitis.

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.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

lymphoproliferative syndrome 3

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

    Definitive — CD70

  2. LiteraturePresent

    8,441 matched papers (6,379 in last 10 years) Source

  3. Phenotype characterisedPresent

    10 HPO annotations (e.g. Severe varicella zoster infection; Decreased circulating immunoglobulin concentration; Lymphoproliferative disorder) 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 (CD70).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

10

Associated phenotypes · MONDO:0034054

  • Severe varicella zoster infection
  • Decreased circulating immunoglobulin concentration
  • Lymphoproliferative disorder
  • Hodgkin lymphoma
  • Partial absence of specific antibody response to tetanus vaccine

Showing 5 of 10 — 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

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

8,441

8,441 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.

8,441 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).

6,379 in the last 10 years · low confidence

Phrase hits: 10 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

102

Distinct author names in 10 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
    Nguyen TL2 papers · 2026

    Gene Solutions, Ho Chi Minh city, Vietnam.

    Papers in Europe PMC
  2. 02
    Wang Y2 papers · 2021

    School of Basic Medicine and Clinical Pharmacy, China Pharmaceutical University, Nanjing, China.

    Papers in Europe PMC
  3. 03
    Alavi A1 paper · 2021

    Department of Radiology, University of Pennsylvania, Philadelphia, PA, USA.

    Papers in Europe PMC
  4. 04
    Aly M1 paper · 2021

    Department of Radiology, University of Pennsylvania, Philadelphia, PA, USA.

    Papers in Europe PMC
  5. 05
    Bachiller M1 paper · 2020

    Department of Hematology, Hospital Clinic, IDIBAPS, 08036 Barcelona, Spain.

    Papers in Europe PMC
  6. 06
    Battram AM1 paper · 2020

    Department of Hematology, Hospital Clinic, IDIBAPS, 08036 Barcelona, Spain.

    Papers in Europe PMC
  7. 07
    Beneforti L1 paper · 2023

    Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy.

    Papers in Europe PMC
  8. 08
    Borisov O1 paper · 2026

    Institute of Genetic Epidemiology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

    Papers in Europe PMC
  9. 09
    Borja AJ1 paper · 2021

    Department of Radiology, University of Pennsylvania, Philadelphia, PA, USA.

    Papers in Europe PMC
  10. 10
    Braun T1 paper · 2014

    Department of Biostatistics, University of Michigan, Ann Arbor, Michigan.

    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 17 · after dedupe 17 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 17 · dropped 0 · fetched 2026-07-30

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 (17)

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 EBV-induced lymphoproliferative disease due to CD70 deficiency — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

Likely covered — the policy lists Severe combined immunodeficiency (SCID) as a category (Group 1), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.

Group 1 — one-time curative treatment

Up to ₹50 lakh per patient

Financial support for treatment at notified Centres of Excellence (figures evolved from the original ₹20 lakh Group-1 ceiling).

Policy figures change. Verify current MoHFW / CoE guidance before relying on any amount. Verify

Centres of Excellence (15)
  • All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
  • Maulana Azad Medical College — New Delhi, Delhi
  • Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
  • Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
  • Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
  • King Edward Memorial Hospital — Mumbai, Maharashtra
  • Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
  • Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
  • Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
  • All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
  • Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
  • All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
  • Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
  • All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
  • Assam Medical College & Hospital — Dibrugarh, Assam

Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/

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.

("EBV-induced lymphoproliferative disease due to CD70 deficiency" OR "Epstein-Barr virus-induced lymphoproliferative disease due to CD70 molecule deficiency" OR "lymphoproliferative syndrome 3") OR ("CD70" OR "CD70 syndrome" OR "CD70-related")

Run this search on Europe PMC

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

"EBV-induced lymphoproliferative disease due to CD70 deficiency" OR "Epstein-Barr virus-induced lymphoproliferative disease due to CD70 molecule deficiency" OR "lymphoproliferative syndrome 3"

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 (8441) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T18:13:29.570Z