ArticleFrontiers in immunology2023
Case report: Novel variants in RELA associated with familial Behcet's-like disease.
Article in Frontiers in immunology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 33 citations in OpenAlex.
- Truncating RELA variants drive autoinflammation and autoimmunity by impairing the negative feedback control of NF-κB.JCI insight · 2026Article
- Rare variant analysis of whole genome sequenced juvenile idiopathic arthritis multiplex pedigrees identifies rare variants in NOD2 and ACVR1.G3 (Bethesda, Md.) · 2026Article
- Clinical Insights intoGenes · 2026Article
- Genetic Diagnosis and Identification of a Novel De Novo RELA Variant in Familial Behçet-like Autoinflammatory Syndrome Type 3: A Case Report.Journal of clinical immunology · 2026Article
- A Case-Based Literature Review of RELA Associated Inflammatory Diseases.Journal of clinical immunology · 2026Review
- Behçet-like Syndromes: A Comprehensive Review.Dermatopathology (Basel, Switzerland) · 2026Review
- Genetically defined systemic autoinflammatory diseases in pediatric patients with Behçet's disease.Frontiers in immunology · 2026Article
- Case Report: Diverse pediatric phenotypes ofFrontiers in immunology · 2026Article
- RELA Haploinsufficiency Manifesting as an Atypical Phenotype of Crohn's Disease.Inflammatory bowel diseases · 2025Article
- Rheumatologic and Autoimmune Features of Inborn Errors of Immunity: Implications for Diagnosis and Management.Journal of human immunity · 2025Article
- The pathogenesis, clinical presentations and treatment of monogenic systemic vasculitis.Nature reviews. Rheumatology · 2025Review
- Screening, Analysis, and Validation of Endoplasmic Reticulum Stress-Related DEGs in Epilepsy.Cellular and molecular neurobiology · 2025Article
- Case report and literature review: clinical manifestations and treatment of human RelA deficiency.Frontiers in immunology · 2025Review
- Nucleotide metabolism, leukodystrophies, and CNS pathology.Journal of inherited metabolic disease · 2024Review
- The past 25 years in paediatric rheumatology: insights from monogenic diseases.Nature reviews. Rheumatology · 2024Review
- Type I interferon pathway in pediatric systemic lupus erythematosus.World journal of pediatrics : WJP · 2024Review
- Update on ocular manifestations of the main monogenic and polygenic autoinflammatory diseases.Frontiers in ophthalmology · 2024Review
- The roles of immune cells in Behçet's disease.Advances in rheumatology (London, England) · 2023Review
- Dermatologic Findings of RELA-Associated Autoinflammatory Disease.Pediatric dermatologyArticle
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Authors and funding
15 authors at 8 institutions in 3 countries.
Funding
Abstract
RELA haploinsufficiency is a recently described autoinflammatory condition presenting with intermittent fevers and mucocutaneous ulcerations. The RELA gene encodes the p65 protein, one of five NF-κB family transcription factors. As RELA is an essential regulator of mucosal homeostasis, haploinsufficiency leads to decreased NF-κB signaling which promotes TNF-driven mucosal apoptosis with impaired epithelial recovery. Thus far, only eight cases have been reported in the literature. Here, we report four families with three novel and one previously described pathogenic variant in RELA. These four families included 23 affected individuals for which genetic testing was available in 16. Almost half of these patients had been previously diagnosed with more common rheumatologic entities (such as Behcet's Disease; BD) prior to the discovery of their pathogenic RELA variants. The most common clinical features were orogenital ulcers, rash, joint inflammation, and fever. The least common were conjunctivitis and recurrent infections. Clinical variability was remarkable even among familial cases, and incomplete penetrance was observed. Patients in our series were treated with a variety of medications, and benefit was observed with glucocorticoids, colchicine, and TNF inhibitors. Altogether, our work adds to the current literature and doubles the number of reported cases with RELA-Associated Inflammatory Disease (RAID). It reaffirms the central importance of the NF-κB pathway in immunity and inflammation, as well as the important regulatory role of RELA in mucosal homeostasis. RELA associated inflammatory disease should be considered in all patients with BD, particularly those with early onset and/or with a strong family history.
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