ReviewClinical and experimental immunology2014
Aicardi-Goutières syndrome: a model disease for systemic autoimmunity.
Review in Clinical and experimental immunology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
38 citing papers in PubMed, 74 citations in OpenAlex.
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- Autoinflammatory syndromes of STING and TREX1 dysfunction.The Journal of clinical investigation · 2026Review
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- Endogenous Retroelement Activation is Implicated in Interferon-α Production and Anti-Cyclic Citrullinated Peptide Autoantibody Generation in Early Rheumatoid Arthritis.Arthritis & rheumatology (Hoboken, N.J.) · 2025Article
- R-loop and diseases: the cell cycle matters.Molecular cancer · 2024Review
- Functional genomics in inborn errors of immunity.Immunological reviews · 2024Review
- Leukodystrophy Imaging: Insights for Diagnostic Dilemmas.Medical sciences (Basel, Switzerland) · 2024Review
- Neuropsychiatric involvement in juvenile-onset systemic lupus erythematosus (jSLE).Molecular and cellular pediatrics · 2023Review
- Development of an RNase H2 Activity Assay for Clinical Screening.Journal of clinical medicine · 2023Article
- Role of the cGAS-STING pathway in systemic and organ-specific diseases.Nature reviews. Nephrology · 2022Review
- Immunoprofiling of monocytes in STAT1 gain-of-function chronic mucocutaneous candidiasis.Frontiers in immunology · 2022Article
- Histologic Patterns and Clues to Autoinflammatory Diseases in Children: What a Cutaneous Biopsy Can Tell Us.Dermatopathology (Basel, Switzerland) · 2021Review
- Regulation of long non-coding RNAs and genome dynamics by the RNA surveillance machinery.Nature reviews. Molecular cell biology · 2020Review
- Trypanosoma brucei ribonuclease H2A is an essential R-loop processing enzyme whose loss causes DNA damage during transcription initiation and antigenic variation.Nucleic acids research · 2019Article
- Efficacy of Baricitinib in the Treatment of Chilblains Associated With Aicardi-Goutières Syndrome, a Type I Interferonopathy.Arthritis & rheumatology (Hoboken, N.J.) · 2019Article
- Mechanistic link between DNA damage sensing, repairing and signaling factors and immune signaling.Advances in protein chemistry and structural biology · 2019Review
- TREX1 is expressed by microglia in normal human brain and increases in regions affected by ischemia.Brain pathology (Zurich, Switzerland) · 2018Article
- Monogenic systemic lupus erythematosus: insights in pathophysiology.Rheumatology international · 2018Review
- Cytosolic Genomic DNA functions as a Natural Antisense.Scientific reports · 2018Article
- Increased RNA Editing May Provide a Source for Autoantigens in Systemic Lupus Erythematosus.Cell reports · 2018Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Systemic autoimmunity is a complex disease process that results from a loss of immunological tolerance characterized by the inability of the immune system to discriminate self from non-self. In patients with the prototypic autoimmune disease systemic lupus erythematosus (SLE), formation of autoantibodies targeting ubiquitous nuclear antigens and subsequent deposition of immune complexes in the vascular bed induces inflammatory tissue injury that can affect virtually any organ system. Given the extraordinary genetic and phenotypic heterogeneity of SLE, one approach to the genetic dissection of complex SLE is to study monogenic diseases, for which a single gene defect is responsible. Considerable success has been achieved from the analysis of the rare monogenic disorder Aicardi-Goutières syndrome (AGS), an inflammatory encephalopathy that clinically resembles in-utero-acquired viral infection and that also shares features with SLE. Progress in understanding the cellular and molecular functions of the AGS causing genes has revealed novel pathways of the metabolism of intracellular nucleic acids, the major targets of the autoimmune attack in patients with SLE. Induction of autoimmunity initiated by immune recognition of endogenous nucleic acids originating from processes such as DNA replication/repair or endogenous retro-elements represents novel paradigms of SLE pathogenesis. These findings illustrate how investigating rare monogenic diseases can also fuel discoveries that advance our understanding of complex disease. This will not only aid the development of improved tools for SLE diagnosis and disease classification, but also the development of novel targeted therapeutic approaches.
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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.