ReviewInternational journal of molecular sciences2021
Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives.
Review in International journal of molecular sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 48 citations in OpenAlex.
- Anti-citrullinated Protein Antibody-positive Arthralgia Associated with an L110P-E148Q Double Heterozygote: A Case-based Review.Internal medicine (Tokyo, Japan) · 2026Review
- Association of HLA-B alleles with familial mediterranean fever (FMF): A comparative study.Immunologic research · 2026Article
- Classification of recurrent implantation failure patients using peripheral blood immunological and metabolic markers.BioImpacts : BI · 2026Article
- Supersulfides: A Promising Therapeutic Approach for Autoinflammatory Diseases.Microbiology and immunology · 2025Review
- Mapping the genetic landscape of immune-mediated disorders: potential implications for classification and therapeutic strategies.Frontiers in immunology · 2025Article
- Supersulfide donors and their therapeutic targets in inflammatory diseases.Frontiers in immunology · 2025Review
- 3D clustering of gene expression data from systemic autoinflammatory diseases using self-organizing maps (Clust3D).Computational and structural biotechnology journal · 2024Article
- Uncommon Presentation of Pityriasis Rubra Pilaris of the Scalp: Clinical, Trichoscopic, and Histopathologic Features and Review of the Literature.Medicina (Kaunas, Lithuania) · 2024Review
- Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus.The Journal of experimental medicine · 2024Article
- Time for a new approach to drug development for rare systemic autoinflammatory diseases.Nature reviews. Rheumatology · 2024Article
- A Novel Frameshift Variant of the ELF4 Gene in a Patient with Autoinflammatory Disease: Clinical Features, Transcriptomic Profiling and Functional Studies.Journal of clinical immunology · 2024Article
- Expanding clinical characteristics and genotypic profiling of Yao syndrome in Chinese patients.Frontiers in immunology · 2024Article
- The riddle of recurrent fever: a clinical approach to pediatric autoinflammatory diseases.Frontiers in pediatrics · 2024Review
- Molecular genetics in adult-onset Still's disease: next-generation sequencing in 24 patients and literature review.Frontiers in immunology · 2024Observational
- Systemic autoinflammatory disorders.Clinical and experimental pediatrics · 2023Article
- What General Neurologists Should Know about Autoinflammatory Syndromes?Brain sciences · 2023Review
- Monogenic autoinflammatory disease-associated cardiac damage.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2023Review
- The pyrin inflammasome, a leading actor in pediatric autoinflammatory diseases.Frontiers in immunology · 2023Review
- Autoinflammatory manifestations in adult patients.Clinical and experimental immunology · 2022Article
- Interferon in systemic lupus erythematosus-A halfway between monogenic autoinflammatory and autoimmune disease.Heliyon · 2022Review
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Systemic autoinflammatory diseases are a heterogeneous family of disorders characterized by a dysregulation of the innate immune system, in which sterile inflammation primarily develops through antigen-independent hyperactivation of immune pathways. In most cases, they have a strong genetic background, with mutations in single genes involved in inflammation. Therefore, they can derive from different pathogenic mechanisms at any level, such as dysregulated inflammasome-mediated production of cytokines, intracellular stress, defective regulatory pathways, altered protein folding, enhanced NF-kappaB signalling, ubiquitination disorders, interferon pathway upregulation and complement activation. Since the discover of pathogenic mutations of the pyrin-encoding gene MEFV in Familial Mediterranean Fever, more than 50 monogenic autoinflammatory diseases have been discovered thanks to the advances in genetic sequencing: the advent of new genetic analysis techniques and the discovery of genes involved in autoinflammatory diseases have allowed a better understanding of the underlying innate immunologic pathways and pathogenetic mechanisms, thus opening new perspectives in targeted therapies. Moreover, this field of research has become of great interest, since more than a hundred clinical trials for autoinflammatory diseases are currently active or recently concluded, allowing us to hope for considerable acquisitions for the next few years. General paediatricians need to be aware of the importance of this group of diseases and they should consider autoinflammatory diseases in patients with clinical hallmarks, in order to guide further examinations and refer the patient to a specialist rheumatologist. Here we resume the pathogenesis, clinical aspects and diagnosis of the most important autoinflammatory diseases in children.
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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.