DeCure for Familial Behcet-like autoinflammatory syndrome
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for familial Behcet-like autoinflammatory syndrome — screening already-approved drugs against its 1-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleFamilial Behcet-like autoinflammatory syndrome maps to a 1-gene Open Targets module — the target space DeCure's AI scientist screens approved drugs against.
DeCure.ai methodSignature reversal (LINCS) plus network proximity (STRING) rank already-approved drugs likely to perturb this module — the same engine that produces DeCure.ai's repurposing hypotheses.
Repurposing thesisScreening approved medicines against this disease module, then publishing the evidence for the strongest candidate. Known pharmacology and human exposure data make the first question sharper — they do not establish safety or efficacy in a new indication.
Research record
01
ResearchComing soon
Candidate research + dossier — target rationale, drug-repurposing thesis and evidence pack.proof: Published dossier + on-chain hash
02
ValidationComing soon
In-vitro biological validation at a contract research org (CRO).proof: CRO contract + in-vitro report
03
Peer review & paperComing soon
Peer-reviewed paper published open-access (preprint + journal).proof: DOI + open-access link + on-chain hash
Current lead
No approved-drug candidate for familial behcet-like autoinflammatory syndrome is corroborated in the literature DeepSearch retrieved. Some conditions are managed with non-pharmacological care — a device, surgery or physical therapy — rather than a medicine; that may be the case here, or the literature we found may simply be too sparse yet to support a drug-repurposing angle.
Molecular view
TNF alpha induced protein 3 (TNFAIP3) — TNFAIP3 is one of the genes genetically linked to this disease in Open Targets — shown as context, not as a drug target we're pursuing: no approved-drug candidate for this disease is yet corroborated in the literature we found.
Loading structure…
helix sheet apo structuredrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 3DKB · 2.5 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
A one-year-old infant presenting with haematochezia from three months of age, later developing cutaneous Behçet-like inflammation, was found to carry a heterozygous TNFAIP3 variant (c.460G>T, p.Glu154Ter) not previously described and absent from the GnomAD database. The same variant was identified in the father, who had recurrent oral aphthosis, vitiligo and thyroiditis since childhood. The authors propose that loss-of-function variants in TNFAIP3 may be associated with a very early-onset intestinal Behçet phenotype. This is a single case report; no treatment outcomes or response data are provided.
Behçet-like familial autoinflammatory syndrome is described as a rare autosomal dominant disease based on heterozygous TNFAIP3 mutations, characterised by recurrent fever and recurrent oral-genital ulcers. Only a few patients are described in world literature. One clinical case demonstrates a mixed phenotype combining symptoms resembling Behçet’s disease and autoimmune lymphoproliferative syndrome. No treatment data, response rates, or survival figures are reported in this review.
A clinical review of autoinflammatory diseases and Behçet’s disease summarises pathogenesis and classification, noting that Behçet’s disease is now thought to be an autoinflammatory disease mediated by excess innate immune response. No specific drug, trial, or outcome data for familial Behçet-like syndrome are presented in this review.
What is still missing: no controlled trials exist for this ultra-rare condition; there is no standardised treatment protocol; patient numbers are too small for any stratified analysis; funding for genetic diagnosis and registry-based studies is lacking.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Frontiers in Pediatrics · 2022 · 9 citations · open access
Case Report: An early-onset inflammatory colitis due to a variant in TNFAIP3 causing A20 haploinsufficiency
AbstractAutoinflammatory diseases (AID) are a heterogeneous group of inherited conditions caused by abnormal activation of systems mediating innate immunity. Recent literature focuses on A20 Haploinsufficiency, an autoinflammatory disease with a phenotype resembling Behçet disease (BD). It is caused by loss-of-function mutations in TNFAIP3 gene that result in the activation of a pro-inflammatory pathway. In this case report we describe a one-year-old baby who came to our attention for hematochezia appeared at three months of age which was considered an expression of early-onset colitis. The following appearance of cutaneous inflammation Behçet-like and the positive family history concurred with the diagnosis of an autoinflammatory disease. Extended genetic tests in the patient allowed to identify a heterozygous variant in TNFAIP3 [NM_006290.4:c.460G > T, p.(Glu154Ter)], not previously described and not present in the GnomAD database. As a consequence the diagnosis A20 Haploinsufficiency was established and the appropriate management was started. The same TNFAIP3 variant was also found in her father who had suffered from recurrent oral aphthosis, vitiligo and thyroiditis since childhood. In conclusion, we described a young patient with a novel heterozygous mutation in TNFAIP3 who developed BD-like symptoms. We proposed that loss-of-function variants in TNFAIP3 may be associated with a very early-onset intestinal BD phenotype.
Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) · 2021 · 2 citations · open access
Behcet-like familial autoinflammatory syndrome
AbstractBehcet-like familial autoinflammatory syndrome is a rare autoinflammatory disease with an autosomal dominant mode of inheritance, which is based on heterozygous mutations in the TNFAIP3 gene. It is characterized by recurrent fever, recurrent oral-genital ulcers. Currently, only few patients with this disease are described in the world literature. The clinical case presented in the article demonstrates a new mixed phenotype of pathology in the form of a combination of symptoms resembling Behcet’s disease and autoimmune lymphoproliferative syndrome. It allows us to enrich our knowledge about the genetic nature of autoinflammatory familial Behcet-like syndrome, and indicates the need to more active use of molecular genetic research methods in the differential diagnosis of these diseases.
Experimental Biomedical Research · 2020 · 0 citations · open access
A clinical review of autoinflammatory diseases and Behcet s disease: Classification, pathogenesis and treatment
AbstractBehcet's disease is a rheumatic disease with oral aphthae, genital aphthae, arthritis and vasculitis. Studies about its pathogenesis have increased and is thought to be one of the autoinflammatory diseases in recent years. Autoinflammatory diseases occurs via excess response of innate immune system. In this article pathogenesis and classification of autoinflammatory diseases will be summarized and Behcet's disease will be reviewed by autoinflammatory prospects.
Disease module: DeepOracle (Open Targets). Structures: RDKit from PubChem SMILES. Literature: retrieved by DeepSearch across 234,678,978 indexed works (targeted per-candidate search), resolved on OpenAlex.
DeCure is a research and publication project, not medical advice and not a treatment. "DeCure for X" describes a research goal, not a claim that a cure exists. Backing a cure is a contribution to fund the research — it is not an investment, and confers no yield, royalty, equity or IP ownership. Papers are published open-access by the DeCure.ai DAO.
