A Novel Biallelic STING1 Gene Variant Causing SAVI in Two Siblings

Biochemistry, Genetics and Molecular Biology

• Interferon 100%
• Exon 50%
• Wild Type 50%
• Exome Sequencing 50%
• Protein Structure 50%
• Gain of Function Mutation 50%
• Ruxolitinib 50%
• Janus Kinase Inhibitor 50%

Immunology and Microbiology

• Beta Interferon 100%
• Exon 50%
• Wild Type 50%
• Protein Structure 50%
• Whole Exome Sequencing 50%
• Gain of Function Mutation 50%

Keyphrases

• Vasculopathy 100%
• STING1 100%
• Janus Kinase Inhibitor 16%
• Interferonopathy 16%
• Ruxolitinib 16%