RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:542301

EBV-induced lymphoproliferative disease due to CARMIL2 deficiency

high confidenceDisorder

Also known as: EBV-induced lymphoproliferative disease due to capping protein regulator and myosin 1 linker 2 deficiency

Query health: suspect — Only one of 2 strategies returned hits (phrase). Source fetch failed for trials.

Publications

40

45.2th percentile

Trials

—

Interventional, condition-specific

Researchers

293

Distinct authors in sample

Gene link

CARMIL2

Definitive

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare immune dysregulation disease with immunodeficiency characterized by or childhood onset of a variable including recurrent/persistent bacterial, fungal, and viral infections with involvement of the skin, lower respiratory tract, and gastrointestinal tract, eczema, allergies, and inflammatory bowel disease, among others. EBV-related smooth muscle tumors have also been reported. Immunophenotyping shows decreased Treg counts, as well as a deficient CD3/CD28 co-stimulation response in CD4+ and CD8+ T-cells.

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)

immunodeficiency 58

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.

  1. Gene identifiedPresent

    Definitive — CARMIL2

  2. LiteraturePresent

    40 matched papers (32 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 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 (CARMIL2).

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?

40

40 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.

40 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).

32 in the last 10 years · high confidence · 45.2th percentile (publications denominator)

Phrase hits: 40 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

293

Distinct author names in 40 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
    Lin Y2 papers · 2025

    Baylor Institute for Immunology Research, Baylor Research Institute, Dallas, TX 75246, USA.

    Papers in Europe PMC
  2. 02
    Shen Y2 papers · 2025

    Jiangsu Key Laboratory of Tissue Engineering and Neuroregeneration, Key Laboratory of Neuroregeneration of Ministry of Education, Co-Innovation Center of Neuroregeneration, Nantong University, Nantong, Jiangsu Province, China.

    Papers in Europe PMC
  3. 03
    Wang Z2 papers · 2025

    Department of Hematology, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.

    Papers in Europe PMC
  4. 04
    Zhang H2 papers · 2025

    Department of Hematology, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.

    Papers in Europe PMC
  5. 05
    Abu-Halaweh M1 paper · 2024

    Primary Immunodeficiency Department, Queen Rania Al Abdullah Hospital for Children, King Hussein Medical Center, Queen Rania Al Abdullah Hospital for Children, Amman, Jordan.

    Papers in Europe PMC
  6. 06
    Affaticati LM1 paper · 2023

    Department of Medicine and Surgery, University of Milano Bicocca, Via Cadore 38, 20900 Monza, Italy.

    Papers in Europe PMC
  7. 07
    Ajazi A1 paper · 2022

    The FIRC Institute of Molecular Oncology (IFOM), Milan, Italy.

    Papers in Europe PMC
  8. 08
    Albsoul E1 paper · 2024

    Genetics Laboratory, Philadelphia University, Amman 19392, Jordan.

    Papers in Europe PMC
  9. 09
    Alonso C1 paper · 2017

    Department of Biotechnology, Instituto Nacional de Investigación y Tecnología Agraria y Alimentaria, INIA, Madrid, Spain.

    Papers in Europe PMC
  10. 10
    Alzyoud R1 paper · 2024

    Section of Immunology, Allergy and Rheumatology, Queen Rania Children's Hospital, Queen Rania Al Abdullah Hospital For Children, Amman 11855, Jordan.

    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

high 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 2026-07-26

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 CARMIL2 deficiency" OR "EBV-induced lymphoproliferative disease due to capping protein regulator and myosin 1 linker 2 deficiency" OR "immunodeficiency 58"

Run this search on Europe PMC

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

(empty)

Recall-expansion terms: CARMIL2

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

Source errors: trials: Error: HTTP 400 for https://clinicaltrials.gov/api/v2/studies?query.cond=%22EBV-induced%20lymphoproliferative%20disease%20due%20to%20CARMIL2%20deficiency%22%20OR%20%22EBV-induced%20lymphoproliferative%20disease%20due%20to%20capping%20protein%20regulator%20and%20myosin%201%20linker%202%20deficiency%22%20OR%20%22immunodeficiency%2058%22%20OR%20%22CARMIL2%22&format=json&pageSize=100&countTotal=true

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T18:14:47.097Z