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DeCure for Hyperimmunoglobulinemia D with periodic fever

DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for hyperimmunoglobulinemia D with periodic fever — 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 module2 genesLead labRare & Orphan
All cures
Rare & OrphanDOID:0081450$DeCureRare

The disease map

Disease moduleHyperimmunoglobulinemia D with periodic fever 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 hyperimmunoglobulinemia d with periodic fever 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

mevalonate kinase (MVK) — MVK 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 2R3V · 2.5 Å · ligand none (apo structure). 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.

The Turkish Journal of Pediatrics · 2017 · 9 citations · open access

Two cases of periodic fever syndrome with coexistent mevalonate kinase and Mediterranean fever gene mutations

AbstractÇakan M, Aktay-Ayaz N, Keskindemirci G, Karadağ ŞG. Two cases of periodic fever syndrome with coexistent mevalonate kinase and Mediterranean fever gene mutations. Turk J Pediatr 2017; 59: 467-470. The periodic fever syndromes are autoinflammatory diseases that present with recurrent fever, serositis and rash. Familial Mediterranean fever is the most common periodic fever syndrome and characterized by recurrent attacks of fever, arthritis, peritonitis, pleuritis that typically last 1-3 days. Hyperimmunoglobulinemia D syndrome is another example of periodic fever syndromes and patients have recurrent fever attacks for 3-7 days accompanied by abdominal pain, rash, vomiting, diarrhea, arthralgia, arthritis, aphthous ulcers, and cervical lymphadenopathy. In some cases the clinical picture of the patient does not fit to one autoinflammatory syndrome because of the digenic inheritance. This may cause to overlap or atypical clinical features or an unexpected response to treatment. Herein we report two cases of hyperimmunoglobulinemia D syndrome that also had MEFV gene mutations and familial Mediterranean fever phenotype.

https://doi.org/10.24953/turkjped.2017.04.015
Annals of Internal Medicine · 2001 · 2 citations

Can Genetics Help Diagnose the Hyper-IgD and Periodic Fever Syndrome?

AbstractSummaries for Patients4 September 2001Can Genetics Help Diagnose the Hyper-IgD and Periodic Fever Syndrome?Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-135-5-200109040-00006 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail What is the problem and what is known about it so far?Periodic fever is an uncommon condition defined by recurring bouts of fever in people who seem healthy except during their fever attacks. The condition is hard to diagnose because there are several types of periodic fever as well as multiple causes of recurring fevers. In 1984, researchers identified a type of periodic fever that they called the hyper-IgD and periodic fever syndrome (HIDS). People with HIDS have persistently high levels of an antibody known as immunoglobulin D (IgD). They have recurring bouts of high fever with swollen lymph ... Author, Article, and Disclosure InformationAffiliations: The summary below is from the full report titled “Molecular Analysis of the Mevalonate Kinase Gene in a Cohort of Patients with the Hyper-IgD and Periodic Fever Syndrome: Its Application as a Diagnostic Tool.” It is in the 4 September 2001 issue of Annals of Internal Medicine (volume 135, pages 338-343). The authors are A Simon, L Cuisset, M-F Vincent, SD van der Velde-Visser, M Delpech, JWM van der Meer, and JPH Drenth, for the International HIDS Study Group.Summaries for Patients are a service provided by Annals to help patients better understand the complicated and often mystifying language of modern medicine.Summaries for Patients are presented for informational purposes only. These summaries are not a substitute for advice from your own medical provider. If you have questions about this material, or need medical advice about your own health or situation, please contact your physician. The summaries may be reproduced for not-for-profit educational purposes only. Any other uses must be approved by the American College of Physicians-American Society of Internal Medicine. Previousarticle Advertisement FiguresReferencesRelatedDetailsSee AlsoMolecular Analysis of the Mevalonate Kinase Gene in a Cohort of Patients with the Hyper-IgD and Periodic Fever Syndrome: Its Application as a Diagnostic Tool Anna Simon , Laurence Cuisset , M.-Françoise Vincent , Saskia D. van der Velde-Visser , Marc Delpech , Jos W.M. van der Meer , Joost P.H. Drenth , and Metrics Cited byExtrapyramidal Syndrome Presenting as Dysphagia: A Case ReportProteins identified by serum protein electrophoresis 4 September 2001Volume 135, Issue 5Page: I-36KeywordsArthralgiaBlood cellsDiarrheaFeversGeneticsLymphLymph nodesMolecular biologyRashesVomiting ePublished: 4 September 2001 Issue Published: 4 September 2001 Copyright & PermissionsCopyright © 2001 by American College of Physicians. All Rights Reserved.PDF downloadLoading ...

https://doi.org/10.7326/0003-4819-135-5-200109040-00006

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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