DeCure's autonomous Immuno AI scientist is researching a drug-repurposing hypothesis for TFRC-related combined immunodeficiency — 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 moduleTFRC-related combined immunodeficiency 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 tfrc-related combined immunodeficiency 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
transferrin receptor (TFRC) — TFRC 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 co3drag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 3S9L · 3.22 Å · ligand CARBONATE ION (CO3). Experimental structure, not a prediction.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Klinische Pädiatrie · 2009 · 12 citations
Delayed Onset of (Severe) Combined Immunodeficiency (S)CID (T-B+NK+): Complete IL-7 Receptor Deficiency in a 22 Months Old Girl
AbstractBACKGROUND: Usually IL-7 receptor deficiency presents as (T-B+NK+) (Severe) Combined Immunodeficiency (SCID) within the first six months of life. All published IL-7R-deficient patients so far have been diagnosed and received stem cell transplantation within the first year of life. PATIENT AND METHODS: We present a female patient born to non-consanguineous German parents with delayed manifestation. She presented with superinfected dermatitis at 6 months of life and developed a first pneumonia at age 9 months. On admission to our department at 22 months the patient presented with severe T cell lymphopenia. PNEUMOCYSTIS JIROVECI pneumonia was diagnosed from broncho-alveolar lavage fluid. RESULTS: Sequencing of IL7RA in the patient revealed compound heterozygous mutations. FACS analysis showed no expression of IL-7 receptor alpha-chain on the patient's lympho- and monocytes. The patient successfully received haematopoietic stem cell transplantation from a 9/10 matched unrelated donor at age 24 months. CONCLUSION: [corrected] Despite almost absent T cell functions clinical symptoms occurred late compared to previously published patients. Thus even in patients with moderate clinical symptoms and delayed onset a (T-B+NK+) (Severe) Combined Immunodeficiency ((S)CID)) due to missing IL-7 receptor signalling must be considered.
Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) · 2025 · 0 citations · open access
TREC and KREC profiles in patients with inborn errors of immunity
AbstractTREC/KREC analysis is utilized in neonatal screening for the detection of primary immunodeficiencies caused by genetic defects in proteins essential for T- and B-lymphocyte development. However, the diagnostic value of this method for the postnatal detection of various primary immunodeficiency forms has not yet been fully established. This study aimed to analyze the TREC/KREC profiles in patients with confirmed inborn errors of immunity. TREC/KREC levels were assessed in 44 patients using real-time PCR at the time of diagnosis. Nine patients were diagnosed with severe combined immunodeficiency (SCID), 25 with syndromic combined immunodeficiency, five with immune dysregulation disorders, and five with antibody production defects. Abnormal TREC/KREC values were observed in 100% of children with classical SCID, 56% with syndromic immunodeficiencies, and 80% with antibody production defects. Sub-threshold TREC/KREC levels were found in 55.6% of children with Louis-Bar syndrome, 40% with DiGeorge syndrome, and both patients with Nijmegen syndrome. Normal TREC levels were observed in two children with Wiskott-Aldrich syndrome, in cases of immune regulation disorders, and in isolated cases of Job syndrome and hyper-IgM syndrome. The lowest TREC values were identified in patients with combined immunodeficiency. These findings support the potential of the TREC/KREC assay as a tool for postnatal screening, including for patients with late-onset inborn errors of immunity.
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.
