DeCure for Agammaglobulinemia 10, autosomal dominant
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for agammaglobulinemia 10, 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 10, 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 10, 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
Spi-1 proto-oncogene (SPI1) — SPI1 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 8EE9 · 1.22 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
Agammaglobulinaemia 10, autosomal dominant, is not mentioned in any of the provided abstracts. The 2008 review describes the first two patients ever identified with mutations in Ig beta, which causes an autosomal recessive form of agammaglobulinaemia. The authors note that this broadens the spectrum of known genetic defects and sets a basis for potential future gene therapy, but no treatment data are reported.
The 2016 Iranian cohort study included 87 patients with congenital agammaglobulinaemia. Molecular investigation was performed on 51 of them. Among these, 39 had BTK mutations (one novel), 5 had µ-heavy chain mutations (three novel), and 1 had an Ig alpha deficiency. No patient in this cohort had a mutation consistent with agammaglobulinaemia 10, autosomal dominant. The study found no comprehensive correlation between the type of BTK mutation and clinical severity, but did report that BTK-deficient and autosomal recessive agammaglobulinaemia patients differed significantly in clinical and immunologic characteristics.
No abstract provides any evidence for drug repurposing in agammaglobulinaemia 10. No drug, treatment, or clinical trial is mentioned for this specific condition. The only therapeutic suggestion is a speculative remark about gene therapy in the 2008 review.
What is missing is any identified patient with the autosomal dominant form, any molecular characterisation of that specific defect, any preclinical model, any drug screening data, and any funding for a trial. Without a defined patient population and a measurable outcome, no repurposing hypothesis can be tested.
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.
