ReviewRheumatology (Oxford, England)2019
Current and future advances in genetic testing in systemic autoinflammatory diseases.
Review in Rheumatology (Oxford, England), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 38 citations in OpenAlex.
- Decoding variants of uncertain significance in systemic autoinflammatory diseases.Nature reviews. Rheumatology · 2026Review
- 20 years of progress in the classification of immune-mediated diseases.Nature reviews. Rheumatology · 2026Article
- Adult patients with autoinflammation of unknown origin partially phenocopy the immune presentation of Still's disease.Nature communications · 2026Article
- Clinical, immunological characterisation and treatment response of patients with syndrome of undifferentiated recurrent fever in Chinese children and adolescents: a single-centre cohort study.Frontiers in immunology · 2026Article
- Mechanisms outpacing medicine in autoinflammatory diseases.Frontiers in immunology · 2026Review
- Inflammatory turmoil within: an exploration of autoinflammatory disease genetic underpinnings, clinical presentations, and therapeutic approaches.Advances in rheumatology (London, England) · 2024Review
- Principles of clinical genetics for rheumatologists: clinical indications and interpretation of broad-based genetic testing.Advances in rheumatology (London, England) · 2024Review
- Genetically transitional disease: conceptual understanding and applicability to rheumatic disease.Nature reviews. Rheumatology · 2024Review
- Practical Approach to Diagnosis and Management of IL-1-Mediated Autoinflammatory Diseases (CAPS, TRAPS, MKD, and DIRA).Paediatric drugs · 2024Article
- The discovery of NLRP3 and its function in cryopyrin-associated periodic syndromes and innate immunity.Immunological reviews · 2024Review
- Molecular genetics in adult-onset Still's disease: next-generation sequencing in 24 patients and literature review.Frontiers in immunology · 2024Observational
- The riddle of recurrent fever: a clinical approach to pediatric autoinflammatory diseases.Frontiers in pediatrics · 2024Review
- Systemic autoinflammatory disorders.Clinical and experimental pediatrics · 2023Article
- IL-1 and autoinflammatory disease: biology, pathogenesis and therapeutic targeting.Nature reviews. Rheumatology · 2022Review
- Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.Journal, genetic engineering & biotechnology · 2021Article
- Knowledge and attitudes regarding genetic testing among Jordanians: An approach towards genomic medicine.Saudi journal of biological sciences · 2021Article
- Undifferentiated recurrent fevers in pediatrics are clinically distinct from PFAPA syndrome but retain an IL-1 signature.Clinical immunology (Orlando, Fla.) · 2021Article
- Anakinra and canakinumab for patients with R92Q-associated autoinflammatory syndrome: a multicenter observational study from the AIDA Network.Therapeutic advances in musculoskeletal disease · 2021Article
- Management of Monogenic IL-1 Mediated Autoinflammatory Diseases in Childhood.Frontiers in immunology · 2021Review
- Pediatric recurrent fever and autoinflammation from the perspective of an allergist/immunologist.The Journal of allergy and clinical immunology · 2020Review
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Systemic autoinflammatory diseases (SAIDs) are a group of inflammatory disorders caused by dysregulation in the innate immune system that leads to enhanced immune responses. The clinical diagnosis of SAIDs can be difficult since individually these are rare diseases with considerable phenotypic overlap. Most SAIDs have a strong genetic background, but environmental and epigenetic influences can modulate the clinical phenotype. Molecular diagnosis has become essential for confirmation of clinical diagnosis. To date there are over 30 genes and a variety of modes of inheritance that have been associated with monogenic SAIDs. Mutations in the same gene can lead to very distinct phenotypes and can have different inheritance patterns. In addition, somatic mutations have been reported in several of these conditions. New genetic testing methods and databases are being developed to facilitate the molecular diagnosis of SAIDs, which is of major importance for treatment, prognosis and genetic counselling. The aim of this review is to summarize the latest advances in genetic testing for SAIDs and discuss potential obstacles that might arise during the molecular diagnosis of SAIDs.
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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.