article_metadata: 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
article_metadata: 10.3389/fimmu.2021.636225
article_metadata: Front Immunol
article_metadata: 2021 Mar 22;12:636225.
article_metadata: savi sting autoinflammatory disease interferonopathy pediatrics type i interferon whole exome sequencing
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/33833757/
article_metadata: Inflammation / genetics Lung Diseases, Interstitial / genetics Membrane Proteins / genetics Mutation Peripheral Vascular Diseases / genetics
article_metadata: 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
article_metadata: PMC8023226
article_metadata: 33833757
article_metadata: Case Report: Novel SAVI-Causing Variants in STING1 Expand the Clinical Disease Spectrum and Suggest a Refined Model of STING Activation
article_metadata: 2021