The type I interferonopathies: 10 years on

YJ Crow, DB Stetson - Nature Reviews Immunology, 2022 - nature.com
As brutally demonstrated by the COVID-19 pandemic, an effective immune system is
essential for survival. Developed over evolutionary time, viral nucleic acid detection is a …

Systemic lupus erythematosus pathogenesis: interferon and beyond

S Caielli, Z Wan, V Pascual - Annual review of immunology, 2023 - annualreviews.org
Autoreactive B cells and interferons are central players in systemic lupus erythematosus
(SLE) pathogenesis. The partial success of drugs targeting these pathways, however …

[HTML][HTML] Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease

DB Beck, MA Ferrada, KA Sikora… - … England Journal of …, 2020 - Mass Medical Soc
Background Adult-onset inflammatory syndromes often manifest with overlapping clinical
features. Variants in ubiquitin-related genes, previously implicated in autoinflammatory …

Human life within a narrow range: The lethal ups and downs of type I interferons

YJ Crow, JL Casanova - Science immunology, 2024 - science.org
The past 20 years have seen the definition of human monogenic disorders and their
autoimmune phenocopies underlying either defective or enhanced type I interferon (IFN) …

New insights into the immunopathogenesis of systemic lupus erythematosus

GC Tsokos, MS Lo, PC Reis, KE Sullivan - Nature Reviews …, 2016 - nature.com
The aetiology of systemic lupus erythematosus (SLE) is multifactorial, and includes
contributions from the environment, stochastic factors, and genetic susceptibility. Great gains …

Aicardi–Goutières syndrome and the type I interferonopathies

YJ Crow, N Manel - Nature Reviews Immunology, 2015 - nature.com
Dissection of the genetic basis of Aicardi–Goutières syndrome has highlighted a
fundamental link between nucleic acid metabolism, innate immune sensors and type I …

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 …

Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

X Zhang, D Bogunovic, B Payelle-Brogard… - Nature, 2015 - nature.com
Intracellular ISG15 is an interferon (IFN)-α/β-inducible ubiquitin-like modifier which can
covalently bind other proteins in a process called ISGylation; it is an effector of IFN-α/β …

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

GI Rice, Y del Toro Duany, EM Jenkinson, GMA Forte… - Nature …, 2014 - nature.com
The type I interferon system is integral to human antiviral immunity. However, inappropriate
stimulation or defective negative regulation of this system can lead to inflammatory disease …

IDH1 and IDH2 mutations are frequent events in central chondrosarcoma and central and periosteal chondromas but not in other mesenchymal tumours

MF Amary, K Bacsi, F Maggiani… - The Journal of …, 2011 - Wiley Online Library
Somatic mutations in isocitrate dehydrogenase 1 (IDH1) and IDH2 occur in gliomas and
acute myeloid leukaemia (AML). Since patients with multiple enchondromas have …