ReviewThe Journal of allergy and clinical immunology2022
Pathogenic insights from genetic causes of autoinflammatory inflammasomopathies and interferonopathies.
Review in The Journal of allergy and clinical immunology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
What it found
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Who cites it
28 citing papers in PubMed, 50 citations in OpenAlex.
- Systemic Autoinflammatory Diseases: An Evolving Paradigm of Fevers Beyond Autoimmunity and Infections.Indian pediatrics · 2026Review
- JAK Inhibition inJIMD reports · 2026Article
- Electroacupuncture attenuates neuroinflammation by regulating the NLRP3 inflammasome pathway: an animal study.American journal of translational research · 2026Article
- Tracking inflammation status for improving patient prognosis: A review of current methods, unmet clinical needs and opportunities.Biotechnology advances · 2025Review
- The role of epigenetic modifications in systemic autoinflammatory diseases.Current opinion in immunology · 2025Review
- Article
- The pathogenesis, clinical presentations and treatment of monogenic systemic vasculitis.Nature reviews. Rheumatology · 2025Review
- The crosstalk of monocyte-neutrophil in hair follicles regulates neutrophil transepidermal migration in contact dermatitis.Communications biology · 2025Article
- Serum eosinophil-derived neurotoxin: a new promising biomarker for cow's milk allergy diagnosis.Pediatric research · 2024Article
- Broad-spectrum inflammasome inhibition by thiomuscimol.Cell death discovery · 2024Article
- CNS disease associated with enhanced type I interferon signalling.The Lancet. Neurology · 2024Review
- Nucleotide metabolism, leukodystrophies, and CNS pathology.Journal of inherited metabolic disease · 2024Review
- Disease flares with baricitinib dose reductions and development of flare criteria in patients with CANDLE/PRAAS.Annals of the rheumatic diseases · 2024Article
- IFN-signaling gene expression as a diagnostic biomarker for monogenic interferonopathies.JCI insight · 2024Article
- Article
- Human genetic errors of immunity illuminate an adaptive arsenal model of rapid defenses.Trends in immunology · 2024Review
- cGAS-STING, inflammasomes and pyroptosis: an overview of crosstalk mechanism of activation and regulation.Cell communication and signaling : CCS · 2024Review
- Case report: Novel compound heterozygousFrontiers in immunology · 2024Article
- Systemic autoinflammatory disorders: autoinflammatory and autoimmune disorders.Clinical and experimental pediatrics · 2023Article
- Systemic autoinflammatory disorders.Clinical and experimental pediatrics · 2023Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
A number of systemic autoinflammatory diseases arise from gain-of-function mutations in genes encoding IL-1-activating inflammasomes or cytoplasmic nucleic acid sensors including the receptor and sensor STING and result in increased IL-1 and type I interferon production, respectively. Blocking these pathways in human diseases has provided proof-of-concept, confirming the prominent roles of these cytokines in disease pathogenesis. Recent insights into the multilayered regulation of these sensor pathways and insights into their role in amplifying the disease pathogenesis of monogenic and complex genetic diseases spurred new drug development targeting the sensors. This review provides insights into the pathogenesis and genetic causes of these "prototypic" diseases caused by gain-of function mutations in IL-1-activating inflammasomes (inflammasomopathies) and in interferon-activating pathways (interferonopathies) including STING-associated vasculopathy with onset in infancy, Aicardi-Goutieres syndrome, and proteasome-associated autoinflammatory syndromes that link activation of the viral sensors STING, "self" nucleic acid metabolism, and the ubiquitin-proteasome system to "type I interferon production" and human diseases. Clinical responses and biomarker changes to Janus kinase inhibitors confirm a role of interferons, and a growing number of diseases with "interferon signatures" unveil extensive cross-talk between major inflammatory pathways. Understanding these interactions promises new tools in tackling the significant clinical challenges in treating patients with these conditions.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.