DeCure for Agammaglobulinemia 8, autosomal dominant
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for agammaglobulinemia 8, autosomal dominant — 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 moduleAgammaglobulinemia 8, autosomal dominant 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 agammaglobulinemia 8, autosomal dominant 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
transcription factor 3 (TCF3) — TCF3 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 2YPA · 2.8 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
Agammaglobulinemia 8, autosomal dominant, is not mentioned in any of the provided abstracts. The 2008 review describes the first two patients ever reported with mutations in Ig beta, which caused autosomal recessive agammaglobulinemia, not autosomal dominant. The review notes that these findings broaden the spectrum of genetic defects and set a basis for potential alternative therapeutic approaches such as gene therapy, but no drug, treatment, or clinical outcome data are given.
The 2016 cohort study of 87 Iranian patients with congenital agammaglobulinemia performed molecular investigation on 51 patients. Among those, 39 had BTK mutations (one novel), 5 had µ-heavy chain mutations (three novel), and 1 had an Ig alpha deficiency. No patient with Ig beta deficiency or autosomal dominant agammaglobulinemia was identified. The study found no comprehensive correlation between BTK mutation type and clinical severity, but reported that BTK-deficient and autosomal recessive agammaglobulinemia patients differ significantly in clinical and immunologic characteristics. No response rates, survival figures, or drug interventions are reported.
No abstract provides any evidence for drug repurposing in agammaglobulinemia 8, autosomal dominant. The only therapeutic suggestion is gene therapy, mentioned in the 2008 review as a potential approach, but no trial data, patient numbers, or outcomes support it. What is missing: any clinical trial testing a drug for this specific genetic form, any patient cohort with the autosomal dominant variant, any stratification by mutation type, and any funding directed toward drug repurposing for this ultra-rare condition.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Current Opinion in Allergy and Clinical Immunology · 2008 · 7 citations
Igβ deficiency in humans
AbstractPURPOSE OF REVIEW: To describe novel immunological and molecular findings regarding early B cell development arrest resulting in autosomal recessive agammaglobulinemia. RECENT FINDINGS: Recently two different groups identified mutations in Ig beta, a component of the pre-B cell receptor, responsible for agammaglobulinemia in humans. These are the first two patients ever described with mutations in Ig beta. SUMMARY: These novel findings broaden the spectrum of genetic defects underlying this rare condition. This novel cause of agammaglobulinemia not only sheds light into early B cell development in humans but also sets the basis for potential alternative therapeutic approaches such as gene therapy.
INDIGO (University of Illinois at Chicago) · 2016 · 0 citations · open access
Cohort of Iranian Patients with Congenital Agammaglobulinemia: Mutation Analysis and Novel Gene Defects
Abstract<b>Objectives:</b> Impairment in early B-cell development can cause a predominantly antibody deficiency with severe depletion of peripheral B-cells. Mutations in the gene encoding for Bruton’s-tyrosine-kinase (BTK) and the components of the pre-B-cell receptor complex or downstream signaling molecules have been related to this defect in patients with agammaglobulinemia. <b>Methods:</b> Iranian patients with congenital agammaglobulinemia were included and the correlation between disease-causing mutations and parameters such as clinical and immunologic phenotypes were evaluated in available patients. <b>Results:</b> Out of 87 patients, a molecular investigation was performed on 51 patients leading to identification of 39 cases with BTK (1 novel mutation), 5 cases of µ-heavy chain (3 novel mutations) and 1 case of Igα-deficiencies. <b>Conclusion:</b> Although there is no comprehensive correlation between type of responsible <i>BTK</i> mutation and severity of clinical phenotype, our data suggest that BTK-deficient and autosomal recessive agammaglobulinemia patients differ significantly regarding clinical/immunologic characteristics.
Cohort of Iranian Patients with Congenital Agammaglobulinemia: Mutation Analysis and Novel Gene Defects
Abstract<b>Objectives:</b> Impairment in early B-cell development can cause a predominantly antibody deficiency with severe depletion of peripheral B-cells. Mutations in the gene encoding for Bruton’s-tyrosine-kinase (BTK) and the components of the pre-B-cell receptor complex or downstream signaling molecules have been related to this defect in patients with agammaglobulinemia. <b>Methods:</b> Iranian patients with congenital agammaglobulinemia were included and the correlation between disease-causing mutations and parameters such as clinical and immunologic phenotypes were evaluated in available patients. <b>Results:</b> Out of 87 patients, a molecular investigation was performed on 51 patients leading to identification of 39 cases with BTK (1 novel mutation), 5 cases of µ-heavy chain (3 novel mutations) and 1 case of Igα-deficiencies. <b>Conclusion:</b> Although there is no comprehensive correlation between type of responsible <i>BTK</i> mutation and severity of clinical phenotype, our data suggest that BTK-deficient and autosomal recessive agammaglobulinemia patients differ significantly regarding clinical/immunologic characteristics.
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.
