Systemic juvenile idiopathic arthritis (sJIA) and adult-onset Still’s disease (AOSD) are considered the same disease, but a common approach for diagnosis and management is still missing. Methods In May 2022, EULAR and PReS endorsed a proposal for a joint task force (TF) to develop recommendations for the diagnosis and management of sJIA and AOSD. The TF agreed during a first meeting to address four topics: similarity between sJIA and AOSD, diagnostic biomarkers, therapeutic targets and strategies and complications including macrophage activation syndrome (MAS). Systematic literature reviews were conducted accordingly. Results The TF based their recommendations on four overarching principles, highlighting notably that sJIA and AOSD are one disease, to be designated by one name, Still’s disease. Fourteen specific recommendations were issued. Two therapeutic targets were defined: clinically inactive disease (CID) and remission, that is, CID maintained for at least 6 months. The optimal therapeutic strategy relies on early use of interleukin (IL-1 or IL-6 inhibitors associated to short duration glucocorticoid (GC). MAS treatment should rely on high-dose GCs, IL-1 inhibitors, ciclosporin and interferon-γ inhibitors. A specific concern rose recently with cases of severe lung disease in children with Still’s disease, for which T cell directed immunosuppressant are suggested. The recommendations emphasised the key role of expert centres for difficult-to-treat patients. All overarching principles and recommendations were agreed by over 80% of the TF experts with a high level of agreement. Conclusion These recommendations are the first consensus for the diagnosis and management of children and adults with Still’s disease.

The molecular basis of interindividual clinical variability upon infection with Staphylococcus aureus is unclear. We describe patients with haploinsufficiency for the linear deubiquitinase OTULIN, encoded by a gene on chromosome 5p. Patients suffer from episodes of life-threatening necrosis, typically triggered by S. aureus infection. The disorder is phenocopied in patients with the 5p− (Cri-du-Chat) chromosomal deletion syndrome. OTULIN haploinsufficiency causes an accumulation of linear ubiquitin in dermal fibroblasts, but tumor necrosis factor receptor–mediated nuclear factor κB signaling remains intact. Blood leukocyte subsets are unaffected. The OTULIN-dependent accumulation of caveolin-1 in dermal fibroblasts, but not leukocytes, facilitates the cytotoxic damage inflicted by the staphylococcal virulence factor α-toxin. Naturally elicited antibodies against α-toxin contribute to incomplete clinical penetrance. Human OTULIN haploinsufficiency underlies life-threatening staphylococcal disease by disrupting cell-intrinsic immunity to α-toxin in nonleukocytic cells.

Objectives: Colchicine is the main treatment for FMF. Although a number of individuals with FMF are intolerant/resistant to colchicine, there is no standard definition of colchicine resistance/intolerance. We developed a set of evidence-based core statements defining colchicine resistance/intolerance in patients with FMF that may serve as a guide for clinicians and health authorities. Methods: A set of statements was identified using a modified-Delphi consensus-based approach. The process involved development of an initial colchicine resistance/intolerance-related questionnaire derived from a systematic literature review. The questionnaire, which was completed by an international panel of 11 adult and paediatric rheumatologists with expertise in FMF, was analysed anonymously. The results informed draft consensus statements that were discussed by a round-table expert panel, using a nominal group technique to agree on the selection and wording of the final statements. Results: Consensus among the panel was achieved on eight core statements defining colchicine resistance/intolerance in patients with FMF. A definition of resistance was agreed upon that included recurrent clinical attacks (average one or more attacks per month over a 3-month period) or persistent laboratory inflammation in between attacks. Other core statements recognize the importance of assessing treatment adherence, and the impact of active disease and intolerance to colchicine on quality of life. Conclusion: Based on expert opinion, a set of evidence-based core statements defining colchicine resistance/intolerance in patients with FMF were identified to help guide clinicians and health authorities in the management of patients with FMF.

Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease despite being a rare disease for many rheumatologists. These evidence-based recommendations update the ones issued in 2016 to account for the recent developments in the field and aim to guide rheumatologists and other health professionals in the treatment and follow-up of patients with FMF. A multidisciplinary panel was assembled, including rheumatologists, internists, paediatricians, a nephrologist, an occupational therapist, a physiotherapist, 2 methodologists, and 2 patient representatives, all from the Eastern Mediterranean area and Europe. Several systematic reviews were performed on the pharmacological treatment of FMF and its complications. The previous recommendations were revised considering the updated evidence, and the new levels of evidence were incorporated. The agreement with the recommendations was obtained through a Delphi survey. The final set comprises 4 overarching principles and 12 recommendations, each presented with its degree of agreement (0-10), level of evidence, and rationale. The degree of agreement was greater than 9/10 in all instances, and the level of evidence improved in most updated statements. Improving adherence is emphasised as an important aspect in several statements. These new recommendations include a priority set, quality indicators, and other suggested implementation strategies. This article presents a set of widely accepted recommendations for treating and monitoring FMF, supported by the best available evidence and expert opinion. These recommendations are valuable for guiding physicians in caring for patients with FMF.