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A Novel Biallelic STING1 Gene Variant Causing SAVI in Two Siblings
Malak Ali Alghamdi1, Jaazeel Mulla2, Narjes Saheb Sharif-Askari3
1Department of Pediatrics, Medical Genetic Division, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Frontiers in Immunology
|January 25, 2021
Summary
Homozygous STING1 gene variants cause a severe form of STING-associated vasculopathy of infantile-onset (SAVI). Treatment with Ruxolitinib effectively managed the disease progression in affected siblings.
Area of Science:
- Genetics
- Immunology
- Vascular Biology
Background:
- STING-associated vasculopathy of infantile-onset (SAVI) is an interferonopathy.
- Typically caused by heterozygous gain-of-function mutations in STING1.
Observation:
- Report of a novel homozygous STING1 variant (c.841C>T; p.(Arg281Trp)) in two siblings with SAVI.
- This homozygous variant leads to constitutive STING activation and SAVI phenotype.
Findings:
- Exome sequencing confirmed the homozygous variant segregated with the disease.
- Computational analysis revealed altered STING protein structure and function.
- Patients exhibited elevated serum beta-interferon levels.
Implications:
- This study identifies homozygous STING1 variants as a cause of severe SAVI.
- Janus kinase inhibitor (JAK-I) Ruxolitinib demonstrated efficacy in managing SAVI symptoms and inflammation.
- Findings expand understanding of SAVI pathogenesis and treatment strategies.
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