ReviewInternational journal of rheumatology2013
Monogenic autoinflammatory syndromes: state of the art on genetic, clinical, and therapeutic issues.
Review in International journal of rheumatology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 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
29 citing papers in PubMed, 80 citations in OpenAlex.
- Article
- Narrative Review: Pyoderma Gangrenosum.Cureus · 2024Review
- Article
- Tofacitinib effectiveness in Blau syndrome: a case series of Chinese paediatric patients.Pediatric rheumatology online journal · 2021Article
- Pathogenic implications, incidence, and outcomes of COVID-19 in autoimmune inflammatory joint diseases and autoinflammatory disorders.Advances in rheumatology (London, England) · 2021Review
- Article
- Monogenic autoinflammatory diseases in children: single center experience with clinical, genetic, and imaging review.Insights into imaging · 2020Review
- Review
- Article
- Whole exome sequencing in a child with acute disseminated encephalomyelitis, optic neuritis, and periodic fever syndrome: a case report.Journal of medical case reports · 2019Article
- Dermatologic and Dermatopathologic Features of Monogenic Autoinflammatory Diseases.Frontiers in immunology · 2019Review
- Imaging findings of sterile pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome: differential diagnosis and review of the literature.Pediatric radiology · 2019Review
- From autoinflammation to autoimmunity: old and recent findings.Clinical rheumatology · 2018Review
- Tumor necrosis factor-associated periodic syndrome in adults.Rheumatology international · 2018Review
- Switching Between Biological Treatments in Psoriatic Arthritis: A Review of the Evidence.Drugs in R&D · 2017Review
- Role of genetics in pediatric rheumatology.Turk pediatri arsivi · 2017Review
- The diagnostic evaluation of patients with a suspected hereditary periodic fever syndrome: experience from a referral center in Italy.Internal and emergency medicine · 2017Article
- Lung Involvement in Children with Hereditary Autoinflammatory Disorders.International journal of molecular sciences · 2016Review
- Psoriatic arthritis and psoriasis: differential diagnosis.Clinical rheumatology · 2016Review
- A Snapshot on the On-Label and Off-Label Use of the Interleukin-1 Inhibitors in Italy among Rheumatologists and Pediatric Rheumatologists: A Nationwide Multi-Center Retrospective Observational Study.Frontiers in pharmacology · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Monogenic autoinflammatory syndromes (MAISs) are caused by innate immune system dysregulation leading to aberrant inflammasome activation and episodes of fever and involvement of skin, serous membranes, eyes, joints, gastrointestinal tract, and nervous system, predominantly with a childhood onset. To date, there are twelve known MAISs: familial Mediterranean fever, tumor necrosis factor receptor-associated periodic syndrome, familial cold urticaria syndrome, Muckle-Wells syndrome, CINCA syndrome, mevalonate kinase deficiency, NLRP12-associated autoinflammatory disorder, Blau syndrome, early-onset sarcoidosis, PAPA syndrome, Majeed syndrome, and deficiency of the interleukin-1 receptor antagonist. Each of these conditions may manifest itself with more or less severe inflammatory symptoms of variable duration and frequency, associated with findings of increased inflammatory parameters in laboratory investigation. The purpose of this paper is to describe the main genetic, clinical, and therapeutic aspects of MAISs and their most recent classification with the ultimate goal of increasing awareness of autoinflammation among various internal medicine specialists.
Identifiers
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.