ReviewClinical reviews in allergy & immunology2018
Geoepidemiology and Immunologic Features of Autoinflammatory Diseases: a Comprehensive Review.
Review in Clinical reviews in allergy & immunology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 33 citations in OpenAlex.
- How (Ultra-)Rare Gene Variants Improve Our Understanding of More Common Autoimmune and Inflammatory Diseases.ACR open rheumatology · 2025Review
- NLRP12-associated systemic autoinflammatory diseases in children.Pediatric rheumatology online journal · 2022Review
- Systemic Autoinflammatory Diseases: A Growing Family of Disorders of Overlapping Immune Dysfunction.Rheumatic diseases clinics of North America · 2022Review
- Whole-Exome Sequencing of Patients With Posterior Segment Uveitis.American journal of ophthalmology · 2021Article
- Genome sequencing unveils mutational landscape of the familial Mediterranean fever: Potential implications of IL33/ST2 signalling.Journal of cellular and molecular medicine · 2020Article
- Should we stimulate or suppress immune responses in COVID-19? Cytokine and anti-cytokine interventions.Autoimmunity reviews · 2020Review
- SARS-CoV-2-related paediatric inflammatory multisystem syndrome, an epidemiological study, France, 1 March to 17 May 2020.Euro surveillance : bulletin Europeen sur les maladies transmissibles = European communicable disease bulletin · 2020Article
- The immunobiology of humanized Anti-IL6 receptor antibody: From basic research to breakthrough medicine.Journal of translational autoimmunity · 2020Review
- Pattern and diagnostic evaluation of systemic autoinflammatory diseases other than familial Mediterranean fever among Arab children: a multicenter study from the Pediatric Rheumatology Arab Group (PRAG).Rheumatology international · 2020Article
- Autoimmunity in 2017.Clinical reviews in allergy & immunology · 2018Review
- Baseline antibody profiles predict toxicity in melanoma patients treated with immune checkpoint inhibitors.Journal of translational medicine · 2018Article
- Vasculitis and vasculitis-like manifestations in monogenic autoinflammatory syndromes.Rheumatology international · 2018Review
- One novel and two uncommon MEFV mutations in Japanese patients with familial Mediterranean fever: a clinicogenetic study.Rheumatology international · 2018Article
Corrections and comments
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Authors and funding
9 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The knowledge on systemic autoinflammatory disorders (SAID) is expanding rapidly and new signalling pathways are being decrypted. The concept of autoinflammation has been proposed since 1999, to define a group of diseases with abnormal innate immunity activation. Since then, more than 30 monogenic SAID have been described. In this review, we first describe inflammasomopathies and SAID related to the interleukin-1 pathway. Recent insights into the pathogenesis of familial Mediterranean fever and the function of Pyrin are detailed. In addition, complex or polygenic SAID, such as Still's disease or PFAPA syndrome, are also discussed. Then, major players driving autoinflammation, such as type-1 interferonopathies (including the recently described haploinsuffiency in A20 and otulipenia), TNF-associated periodic syndromes, defects in ubiquitination, and SAID with overlapping features of autoimmunity or immunodeficiency. Discoveries of the pathogenic role of mosaicism, intronic defects coupled to the likelihood to identify digenic or polygenic diseases are providing new challenges for physicians and geneticists. This comprehensive review depicts the various SAID, presenting them according to their predominant pathophysiological mechanism, with a particular emphasis on recent findings. Epidemiologic data are also presented. Finally, we propose a practical diagnostic approach to the most common monogenic SAID, based on the most characteristic clinical presentation of these disorders.
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