RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:542301

EBV-induced lymphoproliferative disease due to CARMIL2 deficiency

medium confidenceDisorder

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

Query health: suspect — Source fetch failed for trials.

Publications

357

78.1th percentile

Trials

—

Interventional, condition-specific

Researchers

293

Distinct authors in sample

Gene link

CARMIL2

Definitive

Readiness

3/6

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.”

3/6 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

    357 matched papers (336 in last 10 years) Source

  3. Phenotype characterisedPresent

    38 HPO annotations (e.g. Seborrheic dermatitis; Muscle spasm; Atrophic scars) 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 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)

38

Associated phenotypes · MONDO:0029134

  • Seborrheic dermatitis
  • Muscle spasm
  • Atrophic scars
  • Allergic rhinitis
  • Helicobacter pylori infection

Showing 5 of 38 — 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?

357

357 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=3967) is 59.

357 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).

336 in the last 10 years · medium confidence · 78.1th 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 11 September 2026 · last trial check 31 July 2026

medium 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.

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

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

Run this search on ClinicalTrials.gov

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&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
  • Publication count (357) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

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