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ORPHA:674762

Early-onset autoinflammatory syndrome due to A20 haploinsufficiency

low confidenceDisorder

Also known as: Early-onset AID due to HA20 · Early-onset autoinflammatory disorder due to HA20 · Early-onset autoinflammatory syndrome associated with TNFAIP3 · HA20-related monogenic Behcet-like disease

Publications

11,335

Trials

0

Interventional, condition-specific

Researchers

88

Distinct authors in sample

Gene link

TNFAIP3

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare autoinflammatory syndrome characterized by mostly early-onset, recurrent, refractory fever attacks, painful and recurrent mucosal ulceration affecting predominantly gastrointestinal (that may lead to inflammatory bowel disease), oral and genital areas. Additional variable features may include skin rash, psoriasis, axillary dermal abscesses, musculoskeletal disorders, polyarthritis, arthralgia, and autoimmune thyroid disorder. Ocular manifestations (including uveitis, chorioretinal scarring and macular fibrosis secondary to retinal vasculitis) are infrequent.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (5)

Behçet-like disease due to HA20 · Behçet-like disease due to haploinsufficiency of A20 · autoinflammatory syndrome, familial, Behcet-like 1 · hereditary paediatric Behçet-like disease · hereditary pediatric Behçet-like disease

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.”

4/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Strong — TNFAIP3

  2. LiteraturePresent

    11,335 matched papers (8,377 in last 10 years) Source

  3. Phenotype characterisedPresent

    14 HPO annotations (e.g. Anterior uveitis; Hemolytic anemia; Skin rash) 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 trialPartial

    None under the specific name; 8 for broader category autoinflammatory syndrome

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 (TNFAIP3).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

14

Associated phenotypes · MONDO:0800045

  • Anterior uveitis
  • Hemolytic anemia
  • Skin rash
  • Antinuclear antibody positivity
  • Lupus anticoagulant

Showing 5 of 14 — 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?

11,335

11,335 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.

11,335 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).

8,377 in the last 10 years · low confidence

Phrase hits: 1 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

88

Distinct author names in 1 sampled paper — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Ait-Idir D1 paper · 2022

    Research Laboratory, Biodiversity, Biotechnology, Environment and Sustainable Development, Department of Biology, Faculty of Sciences, M'Hamed Bougara University, Boumerdes, Algeria.

    Papers in Europe PMC
  2. 02
    Alessio M1 paper · 2022

    Pediatric Rheumatology Unit, Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy.

    Papers in Europe PMC
  3. 03
    Almaghlouth IA1 paper · 2022

    Rheumatology Unit, Department of Medicine, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

    Papers in Europe PMC
  4. 04
    Aragona E1 paper · 2022

    Division of Gastroenterology, Ospedali Riuniti Villa Sofia-Vincenzo Cervello, Palermo, Italy.

    Papers in Europe PMC
  5. 05
    Balistreri A1 paper · 2022

    Bioengineering and Biomedical Data Science Lab, Department of Medical Biotechnologies, University of Siena, Siena, Italy.

    Papers in Europe PMC
  6. 06
    Benacquista L1 paper · 2022

    Department of Life Sciences and Global Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

    Papers in Europe PMC
  7. 07
    Caggiano V1 paper · 2022

    Department of Medical Sciences, Surgery and Neurosciences, Research Center of Systemic Autoinflammatory Diseases and Behçet's Disease Clinic, University of Siena, Siena, Italy.

    Papers in Europe PMC
  8. 08
    Cantarini L1 paper · 2022

    Department of Medical Sciences, Surgery and Neurosciences, Research Center of Systemic Autoinflammatory Diseases and Behçet's Disease Clinic, University of Siena, Siena, Italy.

    Papers in Europe PMC
  9. 09
    Cardinale F1 paper · 2022

    Department of Pediatrics, Pediatric Rheumatology Center, Giovanni XXIII Pediatric Hospital, University of Bari, Bari, Italy.

    Papers in Europe PMC
  10. 10
    Casa FD1 paper · 2022

    Department of Translational Medical Sciences, Section of Clinical Immunology, University of Naples Federico II, Naples, Italy.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 8 trials are registered for autoinflammatory syndrome, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

8 interventional trials matched autoinflammatory syndrome, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: autoinflammatory syndrome

8

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.

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 2026-07-30

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).

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 Early-onset autoinflammatory syndrome due to A20 haploinsufficiency — 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.

("Early-onset autoinflammatory syndrome due to A20 haploinsufficiency" OR "Early-onset AID due to HA20" OR "Early-onset autoinflammatory disorder due to HA20" OR "Early-onset autoinflammatory syndrome associated with TNFAIP3" OR "HA20-related monogenic Behcet-like disease" OR "Behçet-like disease due to HA20" OR "Behçet-like disease due to haploinsufficiency of A20" OR "Behçet-like disease due to haploinsufficiency of the A20" OR "autoinflammatory syndrome, familial, Behcet-like 1" OR "hereditary paediatric Behçet-like disease" OR "hereditary pediatric Behçet-like disease") OR ("TNFAIP3" OR "TNFAIP3 syndrome" OR "TNFAIP3-related")

Run this search on Europe PMC

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

"Early-onset autoinflammatory syndrome due to A20 haploinsufficiency" OR "Early-onset AID due to HA20" OR "Early-onset autoinflammatory disorder due to HA20" OR "Early-onset autoinflammatory syndrome associated with TNFAIP3" OR "HA20-related monogenic Behcet-like disease" OR "Behçet-like disease due to HA20" OR "Behçet-like disease due to haploinsufficiency of A20" OR "Behçet-like disease due to haploinsufficiency of the A20" OR "autoinflammatory syndrome, familial, Behcet-like 1" OR "hereditary paediatric Behçet-like disease" OR "hereditary pediatric Behçet-like disease"

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

Parent-category trials query:

"autoinflammatory syndrome"

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

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
  • Publication count (11335) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T20:20:28.813Z