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autoinflammatory syndrome due to TBK1 deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autoinflammatory syndrome due to TBK1 deficiency

MONDO:0800148

Overview

Any autoinflammatory syndrome in which the cause of the disease is an autosomal recessive variation in the TBK1 gene.

Patient Orgs1 organizations · Autoinflammatory Alliance

ResearchLimited published research (2 articles)

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for autoinflammatory syndrome due to TBK1 deficiency.

2 publications have been identified in PubMed for autoinflammatory syndrome due to TBK1 deficiency. Research spans Review / Meta-Analysis (100%).

Recent Publications

Rigante D (2025). [PMID: 40076498](https://pubmed.ncbi.nlm.nih.gov/40076498/). *International journal of molecular sciences*. [Review / Meta-Analysis]
Stine L (2025). [PMID: 40552831](https://pubmed.ncbi.nlm.nih.gov/40552831/). *mBio*. [Review / Meta-Analysis]

Data assembled from 2 of 12 sources · Last updated Sep 20, 2026, 8:43 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Patient Advocacy Groups

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Autoinflammatory AlliancePrimary Focus

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Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.

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Medical References

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→How can I connect with Autoinflammatory Alliance and other patient organizations for support?

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autoinflammatory syndrome due to TBK1 deficiency

Overview

Research Landscape

Recent Publications

Patient Support

Patient Advocacy Groups

Medical References

Related Diseases

Questions for Your Care Team

Questions for Your Care Team