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This section gives an overview of the disease, and where available shows the following:
More information can be found in the help pages.
✖Disease ID: | 1171 | |
Name: | STING-associated vasculopathy with onset in infancy | |
Associated with: | 1 target |
Synonyms |
SAVI | STING-associated vasculopathy, infantile-onset |
Description |
An autoinflammatory interferonopathy characterised by neonatal-onset of systemic inflammation especially affecting the skin, blood vessels, and lungs. |
Database Links |
OMIM:
615934 |
Click on the target name to link to its detailed view page
Where available, information is display on the role of the target in the disease; drugs which target the disease and their therapeutic use and side-effects.
If there is mutation data curated in GtoPdb this is indicated, with a link back to the appropriate section on the target detailed view page
Immuno ligand interactions - If available, a table of immuno-relevant ligands is shown. These ligands have been curated as having an association to the disease and possess interaction data with the target in GtoPdb. The approval status of the ligand is shown, along with curator comments and an indication of whether the target is considered the primary target of the ligand.
More information can be found in the help pages.
✖stimulator of interferon response cGAMP interactor 1 | |
Drugs: | Since no agent directly targets STING, indirect inhibition by the JAK3 inhibitor tofacitinib was studied . Tofacitinib-induced JAK3 inhibition relieves SAVI symptoms by inhibiting the overactive IFN signaling pathway observed in SAVI pathology. |
References: | 1-2 |
Mutations: | stimulator of interferon response cGAMP interactor 1 is associated with 4 mutation. Click here for details ![]() |
Click ligand name to view ligand summary page
Click the arrow in the final column to expand comments
More information can be found in the help pages.
✖No ligand related data available for STING-associated vasculopathy with onset in infancy
1. Liu Y, Jesus AA, Marrero B, Yang D, Ramsey SE, Montealegre Sanchez GA, Tenbrock K, Wittkowski H, Jones OY, Kuehn HS et al.. (2014) Activated STING in a vascular and pulmonary syndrome. N Engl J Med, 371 (6): 507-18. [PMID:25029335]
2. Seo J, Kang JA, Suh DI, Park EB, Lee CR, Choi SA, Kim SY, Kim Y, Park SH, Ye M et al.. (2017) Tofacitinib relieves symptoms of stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy caused by 2 de novo variants in TMEM173. J Allergy Clin Immunol, 139 (4): 1396-1399.e12. [PMID:28041677]