Malak Ali Alghamdi Jaazeel Mulla Narjes Saheb Sharif-Askari Francisco J Guzmán-Vega Stefan T Arold Mervat Abd-Alwahed Nasser Alharbi Tarek Kashour Rabih Halwani
10.3389/fimmu.2020.599564
Front Immunol
2021 Jan 8;11:599564.
jak inhibitor savi sting-associated vasculopathy of infancy sting1 cutaneous vasculopathy interferonopathies pulmonary inflammation
CC BY
https://pubmed.ncbi.nlm.nih.gov/33488593/
Alleles Genetic Diseases, Inborn / immunology Homozygote Membrane Proteins / genetics Mutation, Missense Siblings Vascular Diseases / genetics
Alleles Genetic Diseases, Inborn / immunology Homozygote Membrane Proteins / genetics Mutation, Missense Siblings Vascular Diseases / genetics Case Reports Research Support, Non-U.S. Gov't Adolescent Amino Acid Substitution Child Exome Sequencing Female Genetic Diseases, Inborn / drug therapy Genetic Diseases, Inborn / genetics Genetic Diseases, Inborn / pathology Humans Inflammation / drug therapy Inflammation / genetics Inflammation / immunology Inflammation / pathology Janus Kinase 1 / antagonists & inhibitors Janus Kinase 1 / genetics Janus Kinase 1 / immunology Male Membrane Proteins / immunology Nitriles Pyrazoles / administration & dosage Pyrimidines Vascular Diseases / drug therapy Vascular Diseases / immunology Vascular Diseases / pathology Membrane Proteins Nitriles Pyrazoles Pyrimidines STING1 protein, human ruxolitinib JAK1 protein, human Janus Kinase 1
PMC7820697
33488593
A Novel Biallelic STING1 Gene Variant Causing SAVI in Two Siblings
2021