TY  - JOUR
AU  - Lin, Bin
AU  - Torreggiani, Sofia
AU  - Kahle, Dana
AU  - Rumsey, Dax G
AU  - Wright, Benjamin L
AU  - Montes-Cano, Marco A
AU  - Silveira, Laura Fernandez
AU  - Alehashemi, Sara
AU  - Mitchell, Jacob
AU  - Aue, Alexander G
AU  - Ji, Zheng
AU  - Jin, Tengchuan
AU  - de Jesus, Adriana A
AU  - Goldbach-Mansky, Raphaela
PY  - 2021
DO  - 10.3389/fimmu.2021.636225
UR  - http://hdl.handle.net/10668/17553
T2  - Frontiers in immunology
AB  - Gain-of-function mutations in STING1 cause the monogenic interferonopathy, SAVI, which presents with early-onset systemic inflammation, cold-induced vasculopathy and/or interstitial lung disease. We identified 5 patients (3 kindreds) with...
LA  - en
KW  - SAVI
KW  - STING
KW  - autoinflammatory disease
KW  - interferonopathy
KW  - pediatrics
KW  - type I interferon
KW  - whole exome sequencing
KW  - Adult
KW  - Child
KW  - DNA Mutational Analysis
KW  - Female
KW  - Genetic Predisposition to Disease
KW  - HEK293 Cells
KW  - Humans
KW  - Inflammation
KW  - Lung Diseases, Interstitial
KW  - Male
KW  - Membrane Proteins
KW  - Middle Aged
KW  - Models, Molecular
KW  - Mutation
KW  - Peripheral Vascular Diseases
KW  - Phenotype
KW  - Protein Conformation
KW  - Protein Multimerization
KW  - Severity of Illness Index
KW  - Structure-Activity Relationship
KW  - Exome Sequencing
KW  - Young Adult
TI  - Case Report: Novel SAVI-Causing Variants in STING1 Expand the Clinical Disease Spectrum and Suggest a Refined Model of STING Activation.
TY  - research article
VL  - 12
ER  -