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ORPHA:674762

Early-onset autoinflammatory syndrome due to A20 haploinsufficiency

high 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

1

7th percentile

Trials

2

Interventional, condition-specific

Researchers

88

Distinct authors in sample

Gene link

TNFAIP3

Strong

Readiness

3/6

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.”

3/6 stages with a signal

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

  1. Gene identifiedPresent

    Strong — TNFAIP3

  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

    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 (TNFAIP3).

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?

88

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
    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?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; 2 currently recruiting in our sample. 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 27 July 2026

2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).

high confidence · 82.4th 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: 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.

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.

"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"

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" OR "TNFAIP3"

Recall-expansion terms: TNFAIP3

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: 2 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, 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 2026-07-27T20:20:28.813Z