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ORPHA:391487

STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome

high confidenceDisorder

Publications

3

15.2th percentile

Trials

1

Interventional, condition-specific

Researchers

28

Distinct authors in sample

Gene link

STAT1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

An extremely rare, immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, , delayed puberty, and osteoporosis/osteopenia.

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 (2)

immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant · immunodeficiency type 31C

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 — STAT1

  2. LiteraturePresent

    3 matched papers (3 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 (1 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 (STAT1).

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?

3

3 papers 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.

3 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).

3 in the last 10 years · high confidence · 15.2th percentile (publications denominator)

Phrase hits: 3 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

28

Distinct author names in 3 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
    Al-Ddafari MS1 paper · 2023

    Laboratory of Applied Molecular Biology and Immunology, W0414100, University of Tlemcen, Algeria

    Papers in Europe PMC
  2. 02
    Aldaffari F1 paper · 2023

    Department of Internal Medicine, Medical Center University of Tlemcen, Faculty of Medicine, University of Tlemcen, Tlemcen, Algeria

    Papers in Europe PMC
  3. 03
    Aloi C1 paper · 2023

    LABSIEM (Laboratory for the Study of Inborn Errors of Metabolism), IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.

    Papers in Europe PMC
  4. 04
    Aribi M1 paper · 2023

    Laboratory of Applied Molecular Biology and Immunology, W0414100, University of Tlemcen, Algeria

    Papers in Europe PMC
  5. 05
    Bassi M1 paper · 2023

    Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16100 Genoa, Italy.

    Papers in Europe PMC
  6. 06
    Bocciardi R1 paper · 2023

    UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.

    Papers in Europe PMC
  7. 07
    Caballero-Oteyza A1 paper · 2023

    Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, Albert-Ludwigs-University of Freiburg, Germany

    Papers in Europe PMC
  8. 08
    Caroli F1 paper · 2023

    UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.

    Papers in Europe PMC
  9. 09
    Chen F1 paper · 2024

    Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

    Papers in Europe PMC
  10. 10
    d'Annunzio G1 paper · 2023

    Department of Pediatrics, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.

    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; 1 currently recruiting in our sample. 3 trials are registered for autoimmune enteropathy, 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.

Broader category: autoimmune enteropathy

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.

Observational and natural-history studies

1 observational study matches 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.

"STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome" OR "immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant" OR "immunodeficiency type 31C"

Run this search on Europe PMC

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

"STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome" OR "immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant" OR "immunodeficiency type 31C" OR "STAT1"

Recall-expansion terms: STAT1

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

Parent-category trials query:

"autoimmune enteropathy"

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 2026-07-27T15:07:18.981Z