Bin Lin Sofia Torreggiani Dana Kahle Dax G Rumsey Benjamin L Wright Marco A Montes-Cano Laura Fernandez Silveira Sara Alehashemi Jacob Mitchell Alexander G Aue Zheng Ji Tengchuan Jin Adriana A de Jesus Raphaela Goldbach-Mansky
10.3389/fimmu.2021.636225
Front Immunol
2021 Mar 22;12:636225.
savi sting autoinflammatory disease interferonopathy pediatrics type i interferon whole exome sequencing
CC BY
https://pubmed.ncbi.nlm.nih.gov/33833757/
Inflammation / genetics Lung Diseases, Interstitial / genetics Membrane Proteins / genetics Mutation Peripheral Vascular Diseases / genetics
Inflammation / genetics Lung Diseases, Interstitial / genetics Membrane Proteins / genetics Mutation Peripheral Vascular Diseases / genetics Case Reports Research Support, N.I.H., Intramural Adult Child DNA Mutational Analysis Exome Sequencing Female Genetic Predisposition to Disease HEK293 Cells Humans Inflammation / diagnosis Inflammation / metabolism Inflammation / therapy Lung Diseases, Interstitial / diagnosis Lung Diseases, Interstitial / metabolism Lung Diseases, Interstitial / therapy Male Membrane Proteins / metabolism Middle Aged Models, Molecular Peripheral Vascular Diseases / diagnosis Peripheral Vascular Diseases / metabolism Peripheral Vascular Diseases / therapy Phenotype Protein Conformation Protein Multimerization Severity of Illness Index Structure-Activity Relationship Young Adult Membrane Proteins STING1 protein, human
PMC8023226
33833757
Case Report: Novel SAVI-Causing Variants in STING1 Expand the Clinical Disease Spectrum and Suggest a Refined Model of STING Activation
2021