Monogenic autoinflammatory disorders: conceptual overview, phenotype, and clinical approach

PA Nigrovic, PY Lee, HM Hoffman - Journal of Allergy and Clinical …, 2020 - Elsevier
Autoinflammatory diseases are conditions in which pathogenic inflammation arises primarily
through antigen-independent hyperactivation of immune pathways. First recognized just …

STING-mediated lung inflammation and beyond

ML Frémond, YJ Crow - Journal of clinical immunology, 2021 - Springer
Mendelian autoinflammatory diseases characterized by constitutive activation of the type I
interferon pathway, the so-called type I interferonopathies, constitute a rapidly expanding …

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 …

Pandemic democracy: elections and COVID-19

T Landman, LDG Splendore - COVID-19, 2022 - taylorfrancis.com
This article provides an initial assessment of the many risks posed by the COVID-19
pandemic on the conduct of genuine and transparent elections in the world. It begins with …

Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling

A Lepelley, MJ Martin-Niclós, M Le Bihan… - Journal of Experimental …, 2020 - rupress.org
Heterozygous missense mutations in coatomer protein subunit α, COPA, cause a syndrome
overlapping clinically with type I IFN-mediated disease due to gain-of-function in STING, a …

The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of …

KC Gedik, L Lamot, M Romano, E Demirkaya… - Annals of the …, 2022 - ard.bmj.com
Objective Autoinflammatory type I interferonopathies, chronic atypical neutrophilic
dermatosis with lipodystrophy and elevated temperature/proteasome-associated …

Type I interferon–related kidney disorders

L Lodi, MV Mastrolia, F Bello, GM Rossi, ML Angelotti… - Kidney international, 2022 - Elsevier
Type I interferon (IFN-I) mediates tissue damage in a wide range of kidney disorders, directly
affecting the biology and function of several renal cell types including podocytes, mesangial …

Pathogenic insights from genetic causes of autoinflammatory inflammasomopathies and interferonopathies

B Lin, R Goldbach-Mansky - Journal of Allergy and Clinical Immunology, 2022 - Elsevier
A number of systemic autoinflammatory diseases arise from gain-of-function mutations in
genes encoding IL-1–activating inflammasomes or cytoplasmic nucleic acid sensors …

Janus kinase inhibitors in the treatment of type I interferonopathies: a case series from a single center in China

W Li, W Wang, W Wang, L Zhong, L Gou… - Frontiers in …, 2022 - frontiersin.org
Objective This study aimed to assess the efficacy and safety of 2 Janus kinase (JAK)
inhibitors (jakinibs) tofacitinib and ruxolitinib in the treatment of type I interferonopathies …

A novel STING variant triggers endothelial toxicity and SAVI disease

E Valeri, S Breggion, F Barzaghi… - Journal of Experimental …, 2024 - rupress.org
Gain-of-function mutations in STING cause STING-associated vasculopathy with onset in
infancy (SAVI) characterized by early-onset systemic inflammation, skin vasculopathy, and …