A novel STING1 variant causes a recessive form of STING-associated vasculopathy with onset in infancy (SAVI)

Bin Lin; Roberta Berard; Abdulrahman Al Rasheed; Buthaina Aladba; Philip J Kranzusch; Maggie Henderlight; Alexi Grom; Dana Kahle; Sofia Torreggiani; Alexander G Aue; Jacob Mitchell; Adriana A de Jesus; Grant S Schulert; Raphaela Goldbach-Mansky

doi:10.1016/j.jaci.2020.06.032

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A novel STING1 variant causes a recessive form of STING-associated vasculopathy with onset in infancy (SAVI)

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A novel STING1 variant causes a recessive form of STING-associated vasculopathy with onset in infancy (SAVI)

Bin Lin, Roberta Berard, Abdulrahman Al Rasheed, Buthaina Aladba, Philip J Kranzusch, Maggie Henderlight, Alexi Grom, Dana Kahle, Sofia Torreggiani, Alexander G Aue, …

Journal of allergy and clinical immunology, Vol.146(5), pp.1204-1208.e6

01/11/2020

DOI: https://doi.org/10.1016/j.jaci.2020.06.032

PMID: 32673614

Abstract

Age of Onset

Arabs

Cough

Fatal Outcome

Fever

Genes, Recessive

Humans

Infant

Infant, Newborn

Male

Membrane Proteins - genetics

Mutation - genetics

Pedigree

Respiratory Insufficiency

Tachypnea

Vascular Diseases - epidemiology

Vascular Diseases - genetics

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Title: A novel STING1 variant causes a recessive form of STING-associated vasculopathy with onset in infancy (SAVI)
Creators - without role: Bin Lin - National Institute of Allergy and Infectious Diseases
Roberta Berard - Western Caspian University
Abdulrahman Al Rasheed - King Abdulaziz Medical City
Buthaina Aladba - Sidra Medical and Research Center
Philip J Kranzusch - Harvard University
Maggie Henderlight - Cincinnati Children's Hospital Medical Center
Alexi Grom - University of Cincinnati
Dana Kahle - National Institute of Allergy and Infectious Diseases
Sofia Torreggiani - National Institute of Allergy and Infectious Diseases
Alexander G Aue - National Institute of Allergy and Infectious Diseases
Jacob Mitchell - National Institute of Allergy and Infectious Diseases
Adriana A de Jesus - National Institute of Allergy and Infectious Diseases
Grant S Schulert - University of Cincinnati
Raphaela Goldbach-Mansky - National Institute of Allergy and Infectious Diseases
Publication Details: Journal of allergy and clinical immunology, Vol.146(5), pp.1204-1208.e6
Grant note: K08 AR072075 / NIAMS NIH HHS
Identifiers: 9921734408331
Academic Unit: King Abdulaziz University
Language: English
Resource Type: Journal article