Overview
STING-associated vasculopathy with onset in infancy, often called SAVI, is a rare genetic disease that causes the immune system to stay switched on even when there is no infection. The name comes from the protein it affects: STING, which normally helps the body fight viruses. In SAVI, a change (mutation) in the TMEM173 gene makes the STING protein overactive, sending constant alarm signals that cause widespread inflammation. This inflammation mainly attacks small blood vessels (vasculopathy) and the lungs, and it begins very early in life, usually in the first few months. The most visible signs are painful, blister-like sores on the skin, especially on the cheeks, nose, ears, fingers, and toes. These areas can look frostbitten even in warm weather. Over time, severe cases can lead to loss of finger or toe tips. Inside the body, the lungs are often badly affected, causing scarring (interstitial lung disease) that makes breathing harder over time. There is no cure for SAVI yet. Treatment focuses on calming the overactive immune system. Medicines called JAK inhibitors, such as ruxolitinib and baricitinib, have shown real promise in reducing inflammation and slowing lung damage. Early diagnosis and treatment are very important to protect the lungs and improve quality of life.
Also known as:
Key symptoms:
Painful, blister-like or ulcerated sores on the skin, especially on the face, ears, fingers, and toesSkin that looks frostbitten or purple-red in cold or even normal temperaturesShortness of breath or difficulty breathing due to lung scarringChronic dry coughRecurrent fevers without an obvious infectionSwollen lymph nodesPoor weight gain or failure to thrive in infancyLoss of fingertip or toe tissue in severe casesJoint pain or swellingFatigue and low energyMuscle aches
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Infantile
Begins in infancy, roughly 1 month to 2 years old
FDA & Trial Timeline
1 eventCase Comprehensive Cancer Center — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableWEGOVY
For the treatment of noncirrhotic metabolic dysfunction-associated steatohepatitis (MASH), formerly known as nonalcoholic steatohepatitis (NASH), with moderate to advanced liver fibrosis (consistent w…
For the treatment of noncirrhotic metabolic dysfunction-associated steatohepatitis (MASH), formerly known as nonalcoholic steatohepatitis (NASH), with moderate to advanced liver fibrosis (consistent with stages F2 to F3 fibrosis) in adults
Specialists
View all specialists →No specialists are currently listed for STING-associated vasculopathy with onset in infancy.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Financial Resources
1 resourcesTravel Grants
No travel grants are currently matched to STING-associated vasculopathy with onset in infancy.
Community
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Start the conversation →Latest news about STING-associated vasculopathy with onset in infancy
1 articlesCaregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my child's lung disease right now, and how will we monitor it over time?,Is my child a candidate for JAK inhibitor therapy, and which one would you recommend?,What signs should prompt me to go to the emergency room immediately?,Are there any clinical trials for SAVI that my child might be eligible for?,How should we protect my child's skin, and what wound care routine do you recommend?,What vaccinations are safe given the immune-modifying treatments being used?,Are other family members at risk, and should they be tested?
Common questions about STING-associated vasculopathy with onset in infancy
What is STING-associated vasculopathy with onset in infancy?
STING-associated vasculopathy with onset in infancy, often called SAVI, is a rare genetic disease that causes the immune system to stay switched on even when there is no infection. The name comes from the protein it affects: STING, which normally helps the body fight viruses. In SAVI, a change (mutation) in the TMEM173 gene makes the STING protein overactive, sending constant alarm signals that cause widespread inflammation. This inflammation mainly attacks small blood vessels (vasculopathy) and the lungs, and it begins very early in life, usually in the first few months. The most visible sig
How is STING-associated vasculopathy with onset in infancy inherited?
STING-associated vasculopathy with onset in infancy follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does STING-associated vasculopathy with onset in infancy typically begin?
Typical onset of STING-associated vasculopathy with onset in infancy is infantile. Age of onset can vary across affected individuals.
Are there clinical trials for STING-associated vasculopathy with onset in infancy?
Yes — 1 recruiting clinical trial is currently listed for STING-associated vasculopathy with onset in infancy on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.