DeCure for Severe combined immunodeficiency due to CORO1A deficiency
DeCure's autonomous Immuno AI scientist is researching a drug-repurposing hypothesis for severe combined immunodeficiency due to CORO1A deficiency — screening already-approved drugs against its 2-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleSevere combined immunodeficiency due to CORO1A deficiency maps to a 2-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 severe combined immunodeficiency due to coro1a deficiency 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
LPS responsive beige-like anchor protein (LRBA) — LRBA 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 1T77 · 2.4 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
Severe combined immunodeficiency due to CORO1A deficiency is a recently described form of SCID caused by absent coronin-1A. The condition impairs T-cell and B-cell development, leading to severe bacterial, viral, and fungal infections that usually appear in infancy or early childhood. A 2013 chapter outlines the clinical presentations, immunologic characteristics, and molecular underpinnings of the disorder, noting that therapeutic options range from prophylactic anti-infective measures to hematopoietic stem cell transplantation and gene therapy.
A 2023 case report describes a 13-year-old female patient with a homozygous CORO1A mutation (c.19C>T, p.Arg7Cys) who presented with epidermodysplasia verruciformis and a severe immunodeficiency-associated granulomatous skin lesion. Her father carried the same homozygous nucleotide replacement. The patient showed positive dynamics on a combination of immunoglobulin therapy, topical corticosteroids, and allogeneic haematopoietic stem cell transplantation from a haploidentical relative donor (her mother), with clinical improvement of the skin lesions. This single case suggests that HSCT can produce observable benefit in this specific mutation.
A separate 2022 report describes the first case of CTPS1 combined immunodeficiency presenting with seronegative mediastinal coccidioidomycosis, but this is a different genetic disorder — not CORO1A deficiency — and is mentioned only to distinguish the two conditions. No data from controlled trials exist for CORO1A deficiency. The evidence base remains limited to case reports and descriptive chapters. What is still missing is systematic patient registries, prospective natural history studies, and any randomised or controlled trial of HSCT or gene therapy specifically for CORO1A-deficient SCID, as well as validated biomarkers to stratify patients by mutation severity.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Open Forum Infectious Diseases · 2022 · 4 citations · open access
Seronegative Mediastinal Coccidioidomycosis as a Novel Presentation of CTPS1 Combined Immunodeficiency
AbstractInborn errors of immunity may present with susceptibility to coccidioidomycosis. This is especially so in disorders impairing the interferon-γ and interleukin 12 signaling axis. We describe the first case of cytidine nucleotide triphosphate synthetase 1 (CTPS1) deficiency, a combined immunodeficiency impairing lymphocyte proliferation, presenting with coccidioidomycosis.
Oxford University Press eBooks · 2013 · 1 citations
Severe Combined Immunodeficiency Due to Absent Coronin-1A
AbstractAbstract Primary immunodeficiency diseases are inherited disorders that affect human adaptive and innate immunity. In most cases, affected individuals experience recurrent infections, but they may also suffer from autoimmune diseases and malignancies. This chapter focuses on Severe Combined Immunodeficiency Due to Absent Coronin-1A, including the historic and scientific background, clinical presentations, immunologic characteristics, and the molecular/genetic underpinnings. Where appropriate, diagnostic tools and therapeutic options are outlined -- from prophylactic anti-infective measures to hematopoietic stem cell transplantation and gene therapy.
Russian Journal of Clinical Dermatology and Venereology · 2023 · 0 citations
Combination of homozygotic mutation CORO1A and verruciform epidermodysplasia in a 13-year old female patient
AbstractSevere combined immunodeficiency (SCID) represents a wide class of various genetic etiologies primary immunodeficiency diseases and some of them have wide variety of clinical characteristics connected with their specific mutations. Strong combined immunodeficiency disorder usually develops in infancy or early childhood and connected with severe bacterial, viral and / or fungal infections due to mutations in the genes that are responsible for the development of T-cells and B-cells sometimes. Coronin-1A deficiency is one of the most current forms of SCID that were recently detected. In this article we present a rare clinical case of a patient, 13-years old, who had the homozygotic mutation CORO1A with epidermodysplasia verruciformis with severe immunodeficiency-associated granulomatous skin lesion. Her father was revealed a similar replacement of one nucleotide c.19C> T in the homozygous state, leading to the replacement of the amino acid p.Arg7Cys. Positive dynamics was detected on the background of complex treatment with immunoglobulin and external therapy with topical corticosteroids, allogenic transplantation by hematopoietic stem cell from of peripheral blood from haploidentical relative donor (mother) was done with clinical improvement on lesions.
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.
