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ORPHA:238569

Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome

high confidenceDisorder

Also known as: IL10-related early-onset IBD · IL10-related early-onset inflammatory bowel disease

Publications

1

7th percentile

Trials

1

Interventional, condition-specific

Researchers

13

Distinct authors in sample

Gene link

IL10

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare immune dysregulation disease with immunodeficiency characterized by severe, onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma.

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)

immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome

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

    Strong — IL10

  2. LiteraturePresent

    1 matched papers (1 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

    1 matched on ClinicalTrials.gov

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 (IL10).

GenCC classification: Strong.

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?

1

1 paper 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.

1 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).

1 in the last 10 years · high confidence · 7th percentile (publications denominator)

Phrase hits: 1 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

13

Distinct author names in 1 sampled paper — 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
    Bui DT1 paper · 2024

    Genetica Research Foundation, National Innovation Center, Hanoi, Vietnam. duyen.bui@genefriendway.com.

    Papers in Europe PMC
  2. 02
    Cao TA1 paper · 2024

    Genetica Research Foundation, National Innovation Center, Hanoi, Vietnam.

    Papers in Europe PMC
  3. 03
    Harrington J1 paper · 2024

    Genetica Research Foundation, National Innovation Center, Hanoi, Vietnam.

    Papers in Europe PMC
  4. 04
    Nguyen CTD1 paper · 2024

    Pediatric Center Hue Central Hospital, Hue City, Thua Thien Hue, Vietnam.

    Papers in Europe PMC
  5. 05
    Nguyen HT1 paper · 2024

    Genetica Research Foundation, National Innovation Center, Hanoi, Vietnam.

    Papers in Europe PMC
  6. 06
    Nguyen SH1 paper · 2024

    Pediatric Center Hue Central Hospital, Hue City, Thua Thien Hue, Vietnam.

    Papers in Europe PMC
  7. 07
    Nguyen XT1 paper · 2024

    Pediatric Center Hue Central Hospital, Hue City, Thua Thien Hue, Vietnam.

    Papers in Europe PMC
  8. 08
    Pham GLT1 paper · 2024

    Genetica Research Foundation, National Innovation Center, Hanoi, Vietnam.

    Papers in Europe PMC
  9. 09
    Pham HN1 paper · 2024

    Pediatric Center Hue Central Hospital, Hue City, Thua Thien Hue, Vietnam.

    Papers in Europe PMC
  10. 10
    Pham TNV1 paper · 2024

    Pediatric Center Hue Central Hospital, Hue City, Thua Thien Hue, Vietnam.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting. 488 trials are registered for inflammatory bowel disease, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

high confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Broader category: inflammatory bowel disease

488

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

Observational and natural-history studies

2 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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

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.

"Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome" OR "IL10-related early-onset IBD" OR "IL10-related early-onset inflammatory bowel disease"

Run this search on Europe PMC

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

"Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome" OR "IL10-related early-onset IBD" OR "IL10-related early-onset inflammatory bowel disease" OR "IL10"

Recall-expansion terms: IL10

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: 1 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"inflammatory bowel disease"

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

Ingested 2026-07-27T10:24:27.627Z