RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:37042

Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome

low confidenceDisorder

Also known as: Autoimmune enteropathy type 1 · IPEX

Publications

109,900

Trials

2

Interventional, condition-specific

Researchers

1,286

Distinct authors in sample

Gene link

FOXP3

Definitive

Readiness

5/6

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — FOXP3

  2. LiteraturePresent

    109,900 matched papers (78,142 in last 10 years) Source

  3. Phenotype characterisedPresent

    89 HPO annotations (e.g. Secretory diarrhea; Crusting erythematous dermatitis; Anti-thyroid peroxidase antibody positivity) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    2 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)

89

Associated phenotypes · MONDO:0010580

  • Secretory diarrhea
  • Crusting erythematous dermatitis
  • Anti-thyroid peroxidase antibody positivity
  • Hypothyroidism
  • Recurrent infections

Showing 5 of 89 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

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

3

Drugs / clinical candidates · MONDO_0010580

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

109,900

109,900 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

109,900 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).

78,142 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?

2

interventional trials for this specific condition

2 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 11 September 2026 · last trial check 28 July 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

low confidence · 84.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

2 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

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

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).

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 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome — check Associations / patient organisations on that page.

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") OR ("FOXP3" OR "FOXP3 syndrome" OR "FOXP3-related")

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"

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

Study-type breakdown: 2 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"polyendocrinopathy"

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

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 (109900) 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