ReviewClinical immunology (Orlando, Fla.)2013
Monogenic autoinflammatory diseases: concept and clinical manifestations.
Review in Clinical immunology (Orlando, Fla.), 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 87 papers, 1 of them a synthesis that pooled it.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
87 citing papers in PubMed, 1 synthesis or guideline pooled it, 212 citations in OpenAlex.
- The 2021 EULAR/American College of Rheumatology Points to Consider for Diagnosis, Management and Monitoring of the Interleukin-1 Mediated Autoinflammatory Diseases: Cryopyrin-Associated Periodic Syndromes, Tumour Necrosis Factor Receptor-Associated Periodic Syndrome, Mevalonate Kinase Deficiency, and Deficiency of the Interleukin-1 Receptor Antagonist.Arthritis & rheumatology (Hoboken, N.J.) · 2022Pooled it
- Systemic Autoinflammatory Diseases: An Evolving Paradigm of Fevers Beyond Autoimmunity and Infections.Indian pediatrics · 2026Review
- A case of cryopyrin-associated periodic syndrome presenting with abdominal symptoms due to a novel mutation NLRP3 p.Ile257Met.Clinical journal of gastroenterology · 2026Article
- Mechanisms outpacing medicine in autoinflammatory diseases.Frontiers in immunology · 2026Review
- A CD4Immunity · 2025Article
- Autoinflammatory Bone Diseases.Balkan medical journal · 2025Review
- Immune function analysis in a pediatric patient with aFrontiers in immunology · 2025Article
- Interleukin-21 and Interleukin-23 levels in familial Mediterranean Fever before and after treatment: the role of cytokines in disease pathogenesis.Scientific reports · 2024Article
- Inflammatory turmoil within: an exploration of autoinflammatory disease genetic underpinnings, clinical presentations, and therapeutic approaches.Advances in rheumatology (London, England) · 2024Review
- PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response.American journal of human genetics · 2024Article
- A Case of Atypical Familial Mediterranean Fever With Pseudopolyposis-Like Mucosal Changes in the Ileum.Cureus · 2024Article
- Practical Approach to Diagnosis and Management of IL-1-Mediated Autoinflammatory Diseases (CAPS, TRAPS, MKD, and DIRA).Paediatric drugs · 2024Article
- Adult patient diagnosed with Muckle-Wells syndrome, antiphospholipid syndrome and glomerular haematuria.BMJ case reports · 2024Article
- The phenotype and genotype of Chinese adult patients with NLRP3-associated autoinflammatory disease.Clinical rheumatology · 2023Article
- Inflammation, Autoinflammation and Autoimmunity in Inflammatory Bowel Diseases.Current issues in molecular biology · 2023Review
- Host genetics and gut microbiota composition: Baseline gut microbiota composition as a possible prognostic factor for the severity of COVID-19 in patients with familial Mediterranean fever disease.Frontiers in microbiology · 2023Article
- Case report:Frontiers in pediatrics · 2023Article
- Review
- Mevalonate kinase deficiency/Hyperimmunoglobulin D syndrome (MVK/HIDS) in a Differential Diagnosis of Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome and Familial Mediterranean Fever (FMF): A Case Report.Turkish archives of pediatrics · 2022Article
- [Autoinflammation-A clinical and genetic challenge].Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete · 2022Article
27 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
The objective of this review is to describe the clinical manifestations of the growing spectrum of monogenic autoinflammatory diseases including recently described syndromes. The autoinflammatory diseases can be grouped based on clinical findings: 1. the three classic hereditary "periodic fever syndromes", familial Mediterranean Fever (FMF); TNF receptor associated periodic syndrome (TRAPS); and mevalonate kinase deficiency/hyperimmunoglobulinemia D and periodic fever syndrome (HIDS); 2. the cryopyrin associated periodic syndromes (CAPS), comprising familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and neonatal-onset multisystem inflammatory disease (NOMID) or CINCA, and; 3. pediatric granulomatous arthritis (PGA); 4. disorders presenting with skin pustules, including deficiency of interleukin 1 receptor antagonist (DIRA); Majeed syndrome; pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome; deficiency of interleukin 36 receptor antagonist (DITRA); CARD14 mediated psoriasis (CAMPS), and early-onset inflammatory bowel diseases (EO-IBD); 5. inflammatory disorders caused by mutations in proteasome components, the proteasome associated autoinflammatory syndromes (PRAAS) and 6. very rare conditions presenting with autoinflammation and immunodeficiency.
Indexed as
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.