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ORPHA:37042

Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome

low confidenceDisorder

Also known as: Autoimmune enteropathy type 1 · IPEX

Publications

704

Trials

8

Interventional, condition-specific

Researchers

1,286

Distinct authors in sample

Gene link

FOXP3

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare immunodysregulatory disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.

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 (17)

DMSD · IDDM-secretory diarrhea syndrome · IDDM-secretory diarrhoea syndrome · X linked polyendocrinopathy · X-linked autoimmunity-allergic dysregulation syndrome · XLAAD · XPID · autoimmune enteropathy type 1 · autoimmunity-immunodeficiency syndrome, X-linked · diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea · diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhoea · diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked · immune dysfunction and diarrhea syndrome · immune dysfunction and diarrhoea syndrome · immune dysregulation, polyendocrinopathy, and enteropathy X-linked syndrome · immunodysregulation, polyendocrinopathy, and enteropathy, X-linked · immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, X-linked recessive

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 — FOXP3

  2. LiteraturePresent

    704 matched papers (367 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

    8 matched on ClinicalTrials.gov (2 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 (FOXP3).

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?

704

704 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

704 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).

367 in the last 10 years · low confidence

Phrase hits: 704 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,286

Distinct author names in 200 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
    Wang Y7 papers · 2026

    Medical Center for Digestive Diseases, The Second Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu 210011, China.

    Papers in Europe PMC
  2. 02
    Bacchetta R5 papers · 2024

    San Raffaele Telethon Institute for Gene Therapy (HSR-TIGET), Division of Regenerative Medicine, Stem Cells and Gene Therapy, IRCCS San Raffaele Scientific Institute, Via Olgettina 58, 20131, Milan, Italy. rosa.bacchetta@hsr.it.

    Papers in Europe PMC
  3. 03
    Greene MI4 papers · 2020

    Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

    Papers in Europe PMC
  4. 04
    Li B4 papers · 2024

    Department of Pathology and Laboratory Medicine, University of Pennsylvania, 252 John Morgan Building, 36th and Hamilton Walk, Philadelphia, PA 19104-6082, USA.

    Papers in Europe PMC
  5. 05
    Xiao Y4 papers · 2025

    Department of Gastroenterology, Hepatology, and Nutrition, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China.

    Papers in Europe PMC
  6. 06
    Zhang H4 papers · 2026

    Department of Cardiology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China.

    Papers in Europe PMC
  7. 07
    Zhang Y4 papers · 2026

    Cancer Center, National Medical Products Administration Key Laboratory for Clinical Research and Evaluation of Innovative Drugs, West China Hospital, Sichuan University, Chengdu, Sichuan, China.

    Papers in Europe PMC
  8. 08
    Chatila TA3 papers · 2022

    Division of Immunology, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts.

    Papers in Europe PMC
  9. 09
    Consolini R3 papers · 2026

    Section of Clinical and Laboratory Immunology, Division of Pediatrics, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.

    Papers in Europe PMC
  10. 10
    Costagliola G3 papers · 2026

    Section of Clinical and Laboratory Immunology, Division of Pediatrics, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

8

interventional trials for this specific condition

8 interventional trials matched this specific condition name; 2 currently recruiting in our sample. 3 trials are registered for polyendocrinopathy, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

8 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 90.6th percentile).

low confidence · 90.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: polyendocrinopathy

3

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

3 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.

None of the matched observational studies is currently listed as 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-polyendocrinopathy-enteropathy-X-linked syndrome" OR "Autoimmune enteropathy type 1" OR "IDDM-secretory diarrhea syndrome" OR "IDDM-secretory diarrhoea syndrome" OR "X linked polyendocrinopathy" OR "X-linked autoimmunity-allergic dysregulation syndrome" OR "XLAAD" OR "autoimmunity-immunodeficiency syndrome, X-linked" OR "diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea" OR "diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhoea" OR "diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked" OR "immune dysfunction and diarrhea syndrome" OR "immune dysfunction and diarrhoea syndrome" OR "immune dysregulation, polyendocrinopathy, and enteropathy X-linked syndrome" OR "immunodysregulation, polyendocrinopathy, and enteropathy, X-linked" OR "immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, X-linked recessive"

Run this search on Europe PMC

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

"Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome" OR "Autoimmune enteropathy type 1" OR "IDDM-secretory diarrhea syndrome" OR "IDDM-secretory diarrhoea syndrome" OR "X linked polyendocrinopathy" OR "X-linked autoimmunity-allergic dysregulation syndrome" OR "XLAAD" OR "autoimmunity-immunodeficiency syndrome, X-linked" OR "diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea" OR "diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhoea" OR "diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked" OR "immune dysfunction and diarrhea syndrome" OR "immune dysfunction and diarrhoea syndrome" OR "immune dysregulation, polyendocrinopathy, and enteropathy X-linked syndrome" OR "immunodysregulation, polyendocrinopathy, and enteropathy, X-linked" OR "immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, X-linked recessive" OR "FOXP3"

Recall-expansion terms: FOXP3

Interventional trials matched via: phrase, 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: 8 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"polyendocrinopathy"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: IPEX; DMSD; XPID

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 3 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (704) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T23:57:56.064Z