DeCure's autonomous Metabolic AI scientist is researching a drug-repurposing hypothesis for inborn error of immunity — screening already-approved drugs against its 32-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleInborn error of immunity maps to a 32-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 inborn error of immunity 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
Bruton tyrosine kinase (BTK) — BTK 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 7h-pyrrolo[2,3-d]pyrimidin-4-yldrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 6VXQ · 1.4 Å · ligand N-{[4-(7H-pyrrolo[2,3-d]pyrimidin-4-yl)phenyl]methyl}benzamide (RQS). Experimental structure, not a prediction.
What the evidence adds up to
The 2020 IUIS classification of inborn errors of immunity was out of date within days of publication, and a 2021 interim update added 26 monogenic gene defects that met the threshold for novel causes of immune defects. The same review notes that molecular, cellular, and clinical studies have broadened the recognised spectrum of immunological and clinical phenotypes and enabled targeted therapeutic interventions, while challenging notions established in inbred mice. A 2018 literature review found that inborn errors of immunity can affect growth through multiple simultaneous mechanisms: genetic syndromes, disorders of the osteoarticular or endocrine systems, reduced caloric intake, catabolic processes, nutrient loss, and inflammatory or infectious conditions. The review states that in many cases impaired growth can be adjusted with proper treatment of the inborn error of immunity or proper approach to the mechanism of growth impairment, but it is a non-systematic review and provides no quantitative data on how often growth improves or by how much.
A 2024 retrospective study of patients receiving immunoglobulin replacement therapy reports that infections remain the most common finding in this heterogeneous group and are associated with increased morbidity and mortality. The abstract gives no sample size, no infection rates, and no comparison to untreated patients, so it provides no evidence that immunoglobulin therapy reduces infections or mortality in this population. No other treatments are mentioned in any of the abstracts.
What is still missing are prospective trials that measure whether any specific intervention—including immunoglobulin replacement—reliably reduces infection rates or improves growth in defined genetic subgroups. The field lacks standardised outcome measures for growth and infection burden, and most reports are retrospective or narrative reviews. Patient stratification by the specific monogenic defect is rarely done in treatment studies, and funding for such stratified trials remains scarce.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Science Immunology · 2020 · 274 citations · open access
Human inborn errors of immunity: An expanding universe
AbstractMolecular, cellular, and clinical studies of human inborn errors of immunity have revolutionized our understanding of their pathogenesis, considerably broadened their spectrum of immunological and clinical phenotypes, and enabled successful targeted therapeutic interventions. These studies have also been of great scientific merit, challenging a number of immunological notions initially established in inbred mice while revealing previously unrecognized mechanisms of host defense by leukocytes and other cells and of both innate and adaptive tolerance to self.
Jornal de Pediatria · 2018 · 9 citations · open access
Repercussions of inborn errors of immunity on growth
AbstractThis study aimed to review the literature on the repercussions of the different inborn errors of immunity on growth, drawing attention to the diagnosis of this group of diseases in patients with growth disorders, as well as to enable the identification of the different causes of growth disorders in patients with inborn errors of immunity, which can help in their treatment. Non-systematic review of the literature, searching articles since 2000 in PubMed with the terms “growth”, “growth disorders”, “failure to thrive”, or “short stature” AND “immunologic deficiency syndromes”, “immune deficiency disease”, or “immune deficiency” NOT HIV. The Online Mendelian Inheritance in Man (OMIN) database was searched for immunodeficiencies and short stature or failure to thrive. Inborn errors of immunity can affect growth in different ways, and some of them can change growth through multiple simultaneous mechanisms: genetic syndromes; disorders of the osteoarticular system; disorders of the endocrine system; reduction in caloric intake; catabolic processes; loss of nutrients; and inflammatory and/or infectious conditions. The type of inborn errors of immunity allows anticipating what type of growth disorder can be expected. The type of growth disorder can help in the diagnosis of clinical conditions related to inborn errors of immunity. In many inborn errors of immunity, the causes of poor growth are mixed, involving more than one factor. In many cases, impaired growth can be adjusted with proper inborn errors of immunity treatment or proper approach to the mechanism of growth impairment. Revisão da literatura sobre as repercussões dos diferentes erros inatos da imunidade sobre o crescimento, chamar a atenção para o diagnóstico desse grupo de doenças em pacientes que apresentem desordens do crescimento, assim como permitir que se identifiquem as diferentes causas de alterações do crescimento em pacientes com erros inatos da imunidade, o que pode auxiliar em seu manejo. Revisão não sistemática da literatura, com busca de artigos desde 2000 no Pubmed com os termos “growth” ou “growth disorders” ou “failure to thrive” ou “short stature” AND “immunologic deficiency syndromes” ou “immune deficiency disease” ou “imune deficiency” NOT HIV. E buscas na base OMIN (Online Mendelian Inheritance in Man) por imunodeficiências e baixa estatura ou falha no crescimento (“failure to thrive”). Há diferentes modos pelos quais os erros inatos da imunidade podem afetar o crescimento e alguns deles podem alterar o crescimento por múltiplos mecanismos simultâneos: síndromes genéticas; afecções do aparelho osteoarticular; afecções do sistema endócrino; redução de aporte calórico; processos catabólicos: perda de nutrientes, assim como afecções inflamatórias e/ou infecciosas. O tipo de erros inatos da imunidade permite prever que tipo de alteração no crescimento devemos esperar. O tipo de alteração no crescimento pode auxiliar no diagnóstico de condições clínicas associadas aos erros inatos da imunidade. Em muitos erros inatos da imunidade, as causas do crescimento deficiente são mistas, envolvem mais de um fator. Em muitos casos, o prejuízo do crescimento pode ser corrigido com o adequado tratamento dos erros inatos da imunidade ou adequada abordagem do mecanismo que causa o prejuízo do crescimento.
Infectious Complications in Primary Immunodeficiency Patients Receiving Immunoglobulin Replacement Therapy: 5 Years Experience
AbstractObjective: Inborn errors of immunity (IEI), formerly known as primary immunodeficiencies, are a group of inherited diseases affecting different innate and adaptive immune system components. The most common finding in the heterogeneous group of patients with IEI is infections, which are associated with increased morbidity and mortality. This retrospective study aims to determine infections in a heterogeneous group of patients receiving immunoglobulin replacement therapy (IGRT).
Greater South Information System · 2021 · 0 citations · open access
The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee
AbstractThe most recent updated classification of inborn errors of immunity/primary immunodeficiencies, compiled by the International Union of Immunological Societies Expert Committee, was published in January 2020. Within days of completing this report, it was already out of date, evidenced by the frequent publication of genetic variants proposed to cause novel inborn errors of immunity. As the next formal report from the IUIS Expert Committee will not be published until 2022, we felt it important to provide the community with a brief update of recent contributions to the field of inborn errors of immunity. Herein, we highlight studies that have identified 26 additional monogenic gene defects that reach the threshold to represent novel causes of immune defects.
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.
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