ReviewFrontiers in immunology2019
Biochemistry of Autoinflammatory Diseases: Catalyzing Monogenic Disease.
Review in Frontiers in immunology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
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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.
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.
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Who cites it
18 citing papers in PubMed, 29 citations in OpenAlex.
- Biologic-biologic and biologic-JAK inhibitor combination therapy in refractory systemic autoinflammatory diseases.Seminars in arthritis and rheumatism · 2026Observational
- Expanding the phenotypic and genetic spectrum of ORAS with novel homozygous variant in OTULIN gene: a case series and literature review.Pediatric rheumatology online journal · 2025Article
- SIFD-associated TRNT1 deficiency unveils importance of TSPO during macrophage antibacterial and antiviral responses.Frontiers in immunology · 2025Article
- Best Practices for Development and Validation of Enzymatic Activity Assays to Support Drug Development for Inborn Errors of Metabolism and Biomarker Assessment.The AAPS journal · 2024Review
- OTULIN-related conditions: Report of a new case and review of the literature using GenIA.Research square · 2024Article
- Systemic autoinflammatory disorders: autoinflammatory and autoimmune disorders.Clinical and experimental pediatrics · 2023Article
- Novel pathogenicTranslational pediatrics · 2023Article
- Case report:Frontiers in pediatrics · 2023Article
- Compound heterozygous variants in OTULIN are associated with fulminant atypical late-onset ORAS.EMBO molecular medicine · 2022Article
- A Pro-Inflammatory Signature Constitutively Activated in Monogenic Autoinflammatory Diseases.International journal of molecular sciences · 2022Article
- An Update on the Pathogenic Role of Neutrophils in Systemic Juvenile Idiopathic Arthritis and Adult-Onset Still's Disease.International journal of molecular sciences · 2021Review
- Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.Nature reviews. Rheumatology · 2021Review
- Deubiquitylases in developmental ubiquitin signaling and congenital diseases.Cell death and differentiation · 2021Review
- The Ubiquitin-Proteasome System in Immune Cells.Biomolecules · 2021Review
- Somatic Mutations inThe New England journal of medicine · 2020Article
- Revisiting TNF Receptor-Associated Periodic Syndrome (TRAPS): Current Perspectives.International journal of molecular sciences · 2020Review
- Moving towards a systems-based classification of innate immune-mediated diseases.Nature reviews. Rheumatology · 2020Review
- Positive Impact of Expert Reference Center Validation on Performance of Next-Generation Sequencing for Genetic Diagnosis of Autoinflammatory Diseases.Journal of clinical medicine · 2019Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
Monogenic autoinflammatory disorders are a group of conditions defined by systemic or localized inflammation without identifiable causes, such as infection. In contrast to classical primary immunodeficiencies that manifest with impaired immune responses, these disorders are due to defects in genes that regulate innate immunity leading to constitutive activation of pro-inflammatory signaling. Through studying patients with rare autoinflammatory conditions, novel mechanisms of inflammation have been identified that bare on our understanding not only of basic signaling in inflammatory cells, but also of the pathogenesis of more common inflammatory diseases and have guided treatment modalities. Autoinflammation has further been implicated as an important component of cardiovascular, neurodegenerative, and metabolic syndromes. In this review, we will focus on a subset of inherited enzymatic deficiencies that lead to constitutive inflammation, and how these rare diseases have provided insights into diverse areas of cell biology not restricted to immune cells. In this way, Mendelian disorders of the innate immune system, and in particular loss of catalytic activity of enzymes in distinct pathways, have expanded our understanding of the interplay between many seemingly disparate cellular processes. We also explore the overlap between autoinflammation, autoimmunity, and immunodeficiency, which has been increasingly recognized in patients with dysregulated immune responses.
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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.