ReviewNature reviews. Rheumatology2021
Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.
Review in Nature reviews. Rheumatology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
45 citing papers in PubMed, 71 citations in OpenAlex.
- Identification of genetic variants associated with monogenic autoinflammatory diseases in patients with Still's disease using next-generation sequencing.Immunologic research · 2026Article
- A Rare RIPK3 Variant Enhances Necroptosis and Promotes Inflammation in a Still Disease-Like Autoinflammatory Syndrome.Arthritis & rheumatology (Hoboken, N.J.) · 2026Article
- Biologic-biologic and biologic-JAK inhibitor combination therapy in refractory systemic autoinflammatory diseases.Seminars in arthritis and rheumatism · 2026Observational
- Adult patients with autoinflammation of unknown origin partially phenocopy the immune presentation of Still's disease.Nature communications · 2026Article
- NOD2-Related Multisystem Inflammatory Disorders and Recent Advances.Current rheumatology reports · 2026Review
- Novel de novo dominantJournal of human immunity · 2026Article
- Mechanisms outpacing medicine in autoinflammatory diseases.Frontiers in immunology · 2026Review
- Case Report: TRNT1 related autoinflammatory syndrome in a patient with primary ciliary dyskinesia.Frontiers in immunology · 2026Article
- A multidisciplinary RNA-guided approach to complement genomic analysis of unsolved patients with an inborn error of immunity.Frontiers in immunology · 2026Article
- Biology and utilization of R2 retrotransposons.RNA biology · 2025Review
- Baseline Single-Cell Differences in Polyfunctionality Between Systemic Autoinflammatory Diseases Patients and Healthy Controls.European journal of immunology · 2025Article
- The pathogenesis, clinical presentations and treatment of monogenic systemic vasculitis.Nature reviews. Rheumatology · 2025Review
- Review
- A semi-automated ASC speck assay to evaluate pyrin inflammasome activation.Clinical & translational immunology · 2025Article
- Autoinflammatory patients with Golgi-trapped CDC42 exhibit intracellular trafficking defects leading to STING hyperactivation and ER stress.Nature communications · 2024Article
- The central retinal thickness and its related genotype in ABCA4-related retinopathy.Eye (London, England) · 2024Article
- A unified metric of human immune health.Nature medicine · 2024Article
- The past 25 years in paediatric rheumatology: insights from monogenic diseases.Nature reviews. Rheumatology · 2024Review
- Inflammatory turmoil within: an exploration of autoinflammatory disease genetic underpinnings, clinical presentations, and therapeutic approaches.Advances in rheumatology (London, England) · 2024Review
- Genetically transitional disease: conceptual understanding and applicability to rheumatic disease.Nature reviews. Rheumatology · 2024Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Monogenic autoinflammatory diseases are a group of rheumatologic disorders caused by dysregulation in the innate immune system. The molecular mechanisms of these disorders are linked to defects in inflammasome-mediated, NF-κB-mediated or interferon-mediated inflammatory signalling pathways, cytokine receptors, the actin cytoskeleton, proteasome complexes and various enzymes. As with other human disorders, disease-causing variants in a single gene can present with variable expressivity and incomplete penetrance. In some cases, pathogenic variants in the same gene can be inherited either in a recessive or dominant manner and can cause distinct and seemingly unrelated phenotypes, although they have a unifying biochemical mechanism. With an enhanced understanding of protein structure and functionality of protein domains, genotype-phenotype correlations are beginning to be unravelled. Many of the mutated proteins are primarily expressed in haematopoietic cells, and their malfunction leads to systemic inflammation. Disease presentation is also defined by a specific effect of the mutant protein in a particular cell type and, therefore, the resulting phenotype might be more deleterious in one tissue than in another. Many patients present with the expanded immunological disease continuum that includes autoinflammation, immunodeficiency, autoimmunity and atopy, which necessitate genetic testing.
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What OpenQuestion holds
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.