McGonagle D, McDermott MF. A proposed classification of the immunological diseases. PLoS Med. 2006;3(8):e297.

Article  PubMed  PubMed Central  Google Scholar 

Girard-Guyonvarc’h C, Rodriguez E, Mueller YM, Caruso A, Katsikis PD, Gabay C. Elevated serum levels of interleukin-18 discriminate still’s disease from other autoinflammatory conditions: results from the European immunaid cohort. RMD Open. 2025;11(2):e005388.

Article  PubMed  PubMed Central  Google Scholar 

Jordan MB, Hildeman D, Kappler J, Marrack P. An animal model of hemophagocytic lymphohistiocytosis (HLH): CD8 + T cells and interferon gamma are essential for the disorder. Blood. 2004;104(3):735–43.

Article  CAS  PubMed  Google Scholar 

Fautrel B, Mitrovic S, De Matteis A, Bindoli S, Antón J, Belot A, et al. EULAR/PReS recommendations for the diagnosis and management of still’s disease, comprising systemic juvenile idiopathic arthritis and adult-onset still’s disease. Ann Rheum Dis. 2024;83(12):1614–27.

Article  CAS  PubMed  Google Scholar 

Asano T, Furukawa H, Sato S, Yashiro M, Kobayashi H, Watanabe H et al. Effects of HLA-DRB1 alleles on susceptibility and clinical manifestations in Japanese patients with adult onset Still’s disease. Arthritis Res Ther [Internet]. 2017 Dec [cited 2025 July 12];19(1). Available from: https://arthritis-research.biomedcentral.com/articles/https://doi.org/10.1186/s13075-017-1406-x

Ombrello MJ, Remmers EF, Tachmazidou I, Grom A, Foell D, Haas JP, et al. HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis. Proc Natl Acad Sci USA. 2015;112(52):15970–5.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Li Z, Liu HL, Chen J, Zeng T, He L, Li M, et al. Both HLA class I and II regions identified as genome-wide significant susceptibility loci for adult-onset Still’s disease in Chinese individuals. Ann Rheum Dis. 2020;79(1):161–3.

Article  PubMed  Google Scholar 

Boucly A, Mitrovic S, Carmagnat M, Savale L, Jaïs X, Taupin JL, et al. Pulmonary arterial hypertension in adults with Still’s disease: another pulmonary manifestation associated with HLA-DRB1*15. Ann Rheum Dis. 2025. https://doi.org/10.1016/j.ard.2025.04.016.

Article  PubMed  Google Scholar 

Saper VE, Ombrello MJ, Tremoulet AH, Montero-Martin G, Prahalad S, Canna S, et al. Severe delayed hypersensitivity reactions to IL-1 and IL-6 inhibitors link to common HLA-DRB1*15 alleles. Ann Rheum Dis. 2022;81(3):406–15.

Article  CAS  PubMed  Google Scholar 

Wang M, Liu M, Jia J, Shi H, Teng J, Liu H, et al. Association of the leukocyte immunoglobulin-like receptor A3 gene with neutrophil activation and disease susceptibility in adult‐onset Still’s disease. Arthritis Rheum. 2021;73(6):1033–43.

Article  CAS  Google Scholar 

Prieto-Peña D, Labrador-Sánchez E, Melero-González RB, Antón-Pagés F, Palmou-Fontana N, Alvarez-Reguera C, et al. Molecular genetics in adult-onset still’s disease: next-generation sequencing in 24 patients and literature review. Front Immunol. 2024;15:1474271.

Article  PubMed  PubMed Central  Google Scholar 

Sighart R, Rech J, Hueber A, Blank N, Löhr S, Reis A, et al. Evidence for genetic overlap between adult onset Still’s disease and hereditary periodic fever syndromes. Rheumatol Int. 2018;38(1):111–20.

Article  CAS  PubMed  Google Scholar 

Topping J, Chang L, Nadat F, Poulter JA, Ibbotson A, Lara-Reyna S et al. Characterization of genetic landscape and novel inflammatory biomarkers in patients with Adult-Onset still’s disease. Arthritis Rheumatol. 2024.

Karamanakos A, Tektonidou M, Vougiouka O, Gerodimos C, Katsiari C, Pikazis D, et al. Autoinflammatory syndromes with coexisting variants in Mediterranean Fever and other genes: utility of multiple gene screening and the possible impact of gene dosage. Semin Arthritis Rheum. 2022;56:152055.

Article  CAS  PubMed  Google Scholar 

Nonaka F, Migita K, Jiuchi Y, Shimizu T, Umeda M, Iwamoto N, et al. Increased prevalence of MEFV exon 10 variants in Japanese patients with adult-onset still’s disease. Clin Exp Immunol. 2015;179(3):392–7.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wang FF, Huang XF, Shen N, Leng L, Bucala R, Chen SL, et al. A genetic role for macrophage migration inhibitory factor (MIF) in adult-onset still’s disease. Arthritis Res Ther. 2013;15(3):R65.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Correia Marques M, Rubin D, Shuldiner EG, Datta M, Schmitz E, Gutierrez Cruz G et al. Enrichment of rare variants of hemophagocytic lymphohistiocytosis genes in systemic juvenile idiopathic arthritis. Arthritis & Rheumatology. 2024;art.42938.

Fife MS, Gutierrez A, Ogilvie EM, Stock CJ, Samuel JM, Thomson W et al. Novel IL10 gene family associations with systemic juvenile idiopathic arthritis. Arthritis Res Ther 2006 Sept 7;8(5):R148.

Beck DB, Ferrada MA, Sikora KA, Ombrello AK, Collins JC, Pei W, et al. Somatic mutations in UBA1 and severe Adult-Onset autoinflammatory disease. N Engl J Med. 2020;383(27):2628–38.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sano S, Oshima K, Wang Y, MacLauchlan S, Katanasaka Y, Sano M, et al. Tet2-mediated clonal hematopoiesis accelerates heart failure through a mechanism involving the IL-1β/NLRP3 inflammasome. J Am Coll Cardiol. 2018;71(8):875–86.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kanagal-Shamanna R, Beck DB, Calvo KR. Clonal hematopoiesis, inflammation, and hematologic malignancy. Annu Rev Pathol Mech Dis. 2024;19(1):479–506.

Article  CAS  Google Scholar 

Giacomelli R, Ruscitti P, Shoenfeld Y. A comprehensive review on adult onset Still’s disease. J Autoimmun. 2018;93:24–36.

Article  PubMed  Google Scholar 

Wouters JM, van der Veen J, van de Putte LB, de Rooij DJ. Adult onset Still’s disease and viral infections. Ann Rheum Dis. 1988;47(9):764–7.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Liozon E, Ly KH, Vidal-Cathala E, Fauchais AL. Pseudomaladie de still et néoplasie: Une observation de mélanome et revue de La littérature. La Revue De Médecine Interne. 2014;35(1):60–4.

Article  CAS  PubMed  Google Scholar 

Ruscitti P, Cantarini L, Nigrovic PA, McGonagle D, Giacomelli R. Recent advances and evolving concepts in still’s disease. Nat Rev Rheumatol. 2024;20(2):116–32.

Article  PubMed  Google Scholar 

Nigrovic PA. Review: is there a window of opportunity for treatment of systemic juvenile idiopathic arthritis? Arthritis Rheum. 2014;66(6):1405–13.

Article  CAS  Google Scholar 

Tsuboi H, Segawa S, Yagishita M, Toko H, Honda F, Kitada A, et al. Activation mechanisms of monocytes/macrophages in adult-onset still disease. Front Immunol. 2022;13:953730.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Pascual V, Allantaz F, Arce E, Punaro M, Banchereau J. Role of interleukin-1 (IL-1) in the pathogenesis of systemic onset juvenile idiopathic arthritis and clinical response to IL-1 blockade. J Exp Med. 2005;201(9):1479–86.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Tang S, Yang C, Li S, Ding Y, Zhu D, Ying S, et al. Genetic and pharmacological targeting of GSDMD ameliorates systemic inflammation in macrophage activation syndrome. J Autoimmun. 2022;133:102929.

Article  CAS  PubMed  Google Scholar 

Kim HA, Han J, Kim WJ, Noh H, An JM, Yim H, et al. TLR4 endogenous ligand S100A8/A9 levels in Adult-Onset still’s disease and their association with disease activity and clinical manifestations. IJMS. 2016;17(8):1342.

Article  PubMed  PubMed Central  Google Scholar 

Gohar F, McArdle A, Jones M, Callan N, Hernandez B, Kessel C, et al. Molecular signature characterisation of different inflammatory phenotypes of systemic juvenile idiopathic arthritis. Ann Rheum Dis. 2019;78(8):1107–13.

Article  CAS  PubMed  Google Scholar 

Wittkowski H, Frosch M, Wulffraat N, Goldbach-Mansky R, Kallinich T, Kuemmerle‐Deschner J, et al. S100A12 is a novel molecular marker differentiating systemic‐onset juvenile idiopathic arthritis from other causes of fever of unknown origin. Arthritis Rheum. 2008;58(12):3924–31.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Foell D, Saers M, Park C, Brix N, Glerup M, Kessel C, et al. A novel serum calprotectin (MRP8/14) particle-enhanced immuno-turbidimetric assay (sCAL turbo) helps to differentiate systemic juvenile idiopathic arthritis from other d