Severe liver disorder following liver transplantation in STING-associated vasculopathy with onset in infancy

T Ishikawa, E Tamura, M Kasahara, H Uchida… - Journal of Clinical …, 2021 - Springer
Purpose STING-associated vasculopathy with onset in infancy (SAVI) is a type-I
interferonopathy, characterized by systemic inflammation, peripheral vascular inflammation …

A case report of SAVI mimicking early-onset ANCA Vasculitis

E Ochfeld, ML Curran, SE Chiarella, K Ardalan… - Journal of Clinical …, 2021 - Springer
STING-associated vasculopathy with onset in infancy (SAVI) is a type 1 interferonopathy that
is typically characterized by early onset systemic inflammation with cutaneous vasculitis and …

Overview of STING-associated vasculopathy with onset in infancy (SAVI) among 21 patients

ML Frémond, A Hadchouel, L Berteloot, I Melki… - The Journal of Allergy …, 2021 - Elsevier
Background Gain-of-function mutations in STING1 underlie a type I interferonopathy termed
SAVI (STING-associated vasculopathy with onset in infancy). This severe disease is variably …

STING-Associated Vasculopathy with Onset in Infancy: A Review Focusing on Pathophysiology and Treatment Options

K Drougkas, R Smerla, C Skarlis… - Journal of Molecular …, 2023 - mdpi.com
STING-associated vasculopathy with onset in infancy (SAVI) is a rare type Ι interferonopathy
caused by gain of function mutations in an encoding stimulator of interferon genes (STING) …

[HTML][HTML] STING-associated vasculopathy with onset in infancy: a familial case series report and literature review

Y Wang, F Wang, X Zhang - Annals of Translational Medicine, 2021 - ncbi.nlm.nih.gov
Stimulator of interferon genes (STING1) is a key intermediary in activating the type I IFN
response. STING-associated vasculopathy with onset in infancy (SAVI) is a very rare …

Phenotypic spectrum in recessive STING-associated vasculopathy with onset in infancy: Four novel cases and analysis of previously reported cases

R Wan, J Fänder, I Zakaraia, MA Lee-Kirsch… - Frontiers in …, 2022 - frontiersin.org
Gain-of-function variants in the stimulator of interferon response cGAMP interactor 1
(STING1) gene cause STING-Associated Vasculopathy with onset in Infancy (SAVI) …

Complex Allele with Additive Gain-of-Function STING1 Variants in a Patient with Cavitating Lung Lesions and Aspergillosis

A Guffroy, Y Dieudonné, V Gies, F Danion… - Journal of Clinical …, 2022 - Springer
STING-associated vasculopathy with onset in infancy (SAVI) is a rare form of inborn error of
immunity (IEI), belonging to the group of type I interferonopathies that usually affects children …

Case report: acute thrombotic microangiopathy in a patient with STING-Associated vasculopathy with onset in infancy (SAVI)

M Ma, S Mazumder, H Kwak, M Adams… - Journal of Clinical …, 2020 - Springer
Stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI)
is a rare disorder that is associated with extensive inflammation throughout the body due to …

STING-Associated Vasculopathy with Onset in infancy (SAVI) presenting as massive intra alveolar Hemorrhage

C Ladoux, M Pasquet, YJ Crow, ML Frémond… - Journal of Clinical …, 2023 - Springer
Type I interferons (IFNs) play a critical role in the innate immune response to pathogens, and
abnormal activation of IFN signaling underlies a group of autoinflammatory diseases …

A mutation outside the dimerization domain causing atypical STING-associated vasculopathy with onset in infancy

RG Saldanha, KR Balka, S Davidson… - Frontiers in …, 2018 - frontiersin.org
Background Mutations in the gene encoding stimulator of interferon genes (STING) underlie
a type I interferon (IFN) associated disease, STING-associated vasculopathy with onset in …