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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

10

Trials

54

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — CD70

  2. LiteraturePresent

    10 matched papers (8 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    54 matched on ClinicalTrials.gov (43 recruiting in sample)

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)

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?

10

10 papers have ever been indexed 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.

10 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).

8 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?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  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?

54

interventional trials for this specific condition

54 interventional trials matched this specific condition name; 43 currently recruiting in our sample.

Data as of 27 July 2026

54 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 97.2th percentile).

low confidence · 97.2th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

54 interventional trials matched after quoted-phrase search and title/condition post-filter.

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 2026-07-26

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"

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" OR "CD70"

Recall-expansion terms: CD70

Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 54 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

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
  • Trial count (54) far exceeds publication count (10) — trial matching may still be loose

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