Luca Cantarini

• Professor
• Professor (Associate) at University of Siena

Background The study objective was to compare the effectiveness of adalimumab (ADA) in monotherapy and in combination with methotrexate (MTX) for paediatric noninfectious uveitis (NIU). Methods Registry‐based observational study. Children receiving ADA for active uveitis were divided into the ADA monotherapy group (group 1) and the ADA plus MTX co...

Objectives Proteinuria, amyloidosis, and kidney failure are the main long-term renal complications of familial Mediterranean fever (FMF). This study assesses their risk factors, independent of ethnicity or residence. Material and methods Patients’ data were drawn from the International AIDA Network registry for monogenic autoinflammatory diseases....

Background VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is an adult-onset autoinflammatory condition resulting in severe, often treatment-refractory inflammation. Currently, there are no established treatment guidelines for VEXAS syndrome. Objectives To assess the efficacy and safety of conventional disease-modifying a...

Background VEXAS syndrome, a recently identified systemic autoinflammatory disorder, poses new diagnostic and management challenges. Based on experience with other autoinflammatory diseases, anti-interleukin (IL)-1, anti-IL-6, anti-tumor necrosis factor (TNF) biotechnological agents, and Janus kinase inhibitors (JAKis) have been widely employed in...

During the last decade, spondyloarthritis (SpA) has increasingly been considered a disease at the crossroads between autoimmunity and autoinflammation. Some patients may even present with autoinflammatory-related manifestations, including fever, hidradenitis suppurativa, other neutrophilic dermatoses, and an unusually high increase in inflammatory...

Objectives To assess the lung involvement in patients with Still’s disease, an inflammatory disease assessing both children and adults. To exploit possible associated factors for parenchymal lung involvement in these patients. Methods A multicentre observational study was arranged assessing consecutive patients with Still’s disease characterized b...

Correspondence to: Dr Claudia Fabiani, Ophthalmology Unit, Department of Medicine, Surgery and Neurosciences, University of Siena and Azienda Ospedaliero‐Universitaria Senese [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory, and Autoimmune Diseases (RITA) Center], Policlinico “Le Scotte”, viale Bracci 16, 53100 Siena, I...

Objective. Idiopathic inflammatory myopathies (IIM) are rare autoimmune diseases that primarily affect striated muscles; skin, joints, and lungs may be involved with different degrees of severity. Traditional treatment relies on high-dose glucocorticoids and conventional synthetic disease-modifying antirheumatic drugs. Methods. A growing amount of...

Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic (VEXAS) syndrome was described in 2020 as an autoinflammatory disease caused by postzygotic variants in the UBA1 gene. VEXAS syndrome mostly occurs in adult males with a constellation of inflammatory manifestations, among which stand out recurrent fever, musculoskeletal complaints, auricular/...

Objective We aimed to (1) evaluate the cardiac involvement, with a focus on myocarditis, in patients with Still disease included in the multicenter Autoinflammatory Disease Alliance (AIDA) Network Still disease registry; and (2) assess the predictive factors for myocarditis by deriving a clinical risk patient profile for this severe manifestation....

Background: This study aimed to evaluate the effectiveness and drug retention rate of secukinumab (SCK) in axial spondyloarthritis (ax-SpA) within a multicentric real-life cohort. Methods: Data from patients with ax-SpA treated with SCK at five Italian centers were collected retrospectively, excluding those with a diagnosis of Psoriatic Arthritis....

Vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic (VEXAS) is a haemato‐inflammatory syndrome genetically defined by somatic mutations in the X‐linked UBA1 gene, typically Val/Thr/Leu substitutions at the Met41 hotspot. Clinical manifestations are heterogeneous and refractory to most haemato‐rheumatological treatments. To date, no guidelines...

VEXAS is a hemato-inflammatory syndrome genetically defined by somatic mutations in the X-linked UBA1 gene in hematopoietic precursor cells. Val/Thr/Leu substitutions at the Met41 hotspot constitute the molecular underpinnings of VEXAS in more than 90% of patients, typically men during the 6-7th decades of life. Clinical manifestations of the disea...

Introduction Evidence from randomised controlled trials on anti-tumour necrosis factor (TNF) agents in patients with Behçet’s syndrome (BS) is low. Method We conducted a phase 3, multicentre, prospective, randomised, active-controlled, parallel-group study to evaluate the efficacy and safety of either infliximab (IFX) or adalimumab (ADA) in patien...

Objective Tocilizumab (TCZ) is the only biologic drug approved for the treatment of giant cell arteritis (GCA), having clinical trials and real-life studies proved its efficacy and safety. However, the optimal duration of the treatment has yet to be determined, being its early interruption associated with an increased risk of relapse. Conversely, p...

We describe the case of a 73-year-old man affected by pneumoconiosis, secondary to silica dust exposure, who was diagnosed with antineutrophil cytoplasmic antibody (ANCA)-positive microscopic polyangiitis (MPA)-related cervical myelitis. Pneumoconiosis is reported to trigger autoantibody production and the onset of different autoimmune diseases, in...

Objective Dry eye disease (DED) is a condition associated with a myriad of systemic disorders. According to recent preliminary data, axial spondylarthritis (axial-SpA) could represent a new entity associated with DED. Therefore, this study aimed to assess DED in patients with axial SpA by performing quantitative and qualitative specific tests to in...

Introduction Non-infectious inflammatory ocular diseases pose significant challenges in diagnosis and management, often requiring systemic immunosuppressive therapy. Since Janus kinase (JAK) inhibitors may represent a novel therapeutic option for these disorders, the present study aimed to expand current knowledge about their efficacy and safety in...

Objectives: Conflicting results about clinical and subclinical atherosclerosis in systemic sclerosis (SSc) and the associated risk factors have been reported. Hence, we aimed to determine the prevalence of clinical and subclinical atherosclerosis in a large number of Italian SSc patients and the associated risk factors. Methods: This study inclu...

Background Tocilizumab (TCZ) is the only biologic drug approved for the treatment of giant cell arteritis (GCA), having clinical trials and real-life studies proved its efficacy and safety. However, optimal duration of the treatment has yet to be determined, being its early interruption associated with an increased risk of relapse. Conversely, prol...

Background Still’s disease is an inflammatory disorder typically manifesting with fever, arthritis, and skin rash affecting both children and adults, formerly known as systemic juvenile idiopathic arthritis and adult-onset Still’s disease, and burdened by life-threatening complications [1,2]. Objectives To evaluate the clinical usefulness of syste...

Objectives Oral and genital ulcers are the hallmark manifestation of Behçet’s disease (BD), significantly impacting patients’ quality of life. Our study focuses on comparing the effectiveness and safety of TNF inhibitors (TNFis) and apremilast in controlling oral ulcers of BD, aiming to provide evidence-based guidance for physicians in selecting ap...

Purpose: The clinical relevance of human leukocyte antigen (HLA) subtypes such as HLA-B51 on Behçet's disease (BD)-related uveitis and non-infectious uveitis (NIU) unrelated to BD remains largely unknown. Methods: Data were prospectively collected from the International AIDA Network Registry for BD and for NIU. We assessed differences between gr...

Aim Anakinra, an anti IL–1 agent targeting IL–1 alfa and beta, is available for the treatment of recurrent pericarditis in cases with corticosteroid dependence and colchicine resistance after failure of conventional therapies. However, it is unclear if the combination with colchicine, a non–specific inhibitor of the inflammasome targeting the same...

Objective We aimed to evaluate the clinical usefulness of the systemic score in the prediction of life‐threatening evolution in Still disease. We also aimed to assess the clinical relevance of each component of the systemic score in predicting life‐threatening evolution and to derive patient subsets accordingly. Methods A multicenter, observationa...

Objective Inflammation has been associated with an increased risk for cancer development, while innate immune system activation could counteract the risk for malignancies. Familial Mediterranean fever (FMF) is a severe systemic inflammatory condition and also represents the archetype of innate immunity deregulation. Therefore, the aim of this study...

Active sacroiliitis and sacroiliac joint dysfunction represent a common cause of low back pain in the population and are cause of patients’ quality of life reduction and disability worldwide. The use of musculoskeletal ultrasound allows to easily identify the sacroiliac joints and to study every pathological condition affecting its most dorsal part...

Inhibiting Janus Kinases (JAK) is a crucial therapeutic strategy in rheumatoid arthritis (RA). However, the use of JAK inhibitors has recently raised serious safety concerns. The study aims to evaluate the safety profile of JAKi in patients with RA and identify potential risk factors (RFs) for adverse events (AEs). Data of RA patients treated with...

This study aims to characterize ocular manifestations of juvenile Behçet’s disease (jBD). This was a registry-based observational prospective study. All subjects with jBD from the Autoinflammatory Diseases Alliance (AIDA) Network BD Registry showing ocular manifestations before 18 years were enrolled. We included 27 of 1000 subjects enrolled in the...

Aim Anakinra, an anti IL-1 agent targeting IL-1 alfa and beta, is available for the treatment of recurrent pericarditis in cases with corticosteroid dependence and colchicine resistance after failure of conventional therapies. However, it is unclear if the combination with colchicine, a non-specific inhibitor of the inflammasome targeting the same...

Autoinflammatory diseases include disorders with a genetic cause and also complex syndromes associated to polygenic or multifactorial factors. Eye involvement is present in many of them, with different extent and severity. The present review covers ophthalmological lesions in the most prevalent monogenic autoinflammatory diseases, including FMF (fa...

Objectives Ultrasound has a paramount role in the diagnostic assessment of giant cell arteritis (GCA); Southend halo score (HS), halo count (HC), and OMERACT GCA Ultrasonography Score (OGUS) are the first quantitative scores proposed in this setting. The aim of this study was therefore to assess the diagnostic accuracy of these scores in a real-lif...

Since many biological drug patents have expired, biosimilar agents (BIOs) have been developed; however, there are still some reservations in their use, especially in childhood. The aim of the current study is to evaluate the efficacy and safety of tumor necrosis factor (TNF) inhibitors BIOs as treatment for pediatric non-infectious uveitis (NIU). D...

Still's disease is a rare inflammatory syndrome that encompasses systemic juvenile idiopathic arthritis and adult-onset Still's disease, both of which can exhibit life-threatening complications, including macrophage activation syndrome (MAS), a secondary form of haemophagocytic lymphohistiocytosis. Genetic insights into Still's disease involve both...

(1) Objective: To determine the diagnostic accuracy of major salivary gland ultrasonography (SGUS) in primary Sjogren’s syndrome (SS), we used the Outcome Measures in Rheumatology Clinical Trials (OMERACT) scoring system on a large single-centre cohort of patients with sicca syndrome. (2) Method: We retrospectively collected the clinical, imaging a...

The aim of this study was to evaluate the effectiveness and safety of the anti-IL-1 receptor anakinra in patients with chronic active myocarditis refractory to standard therapy. In this retrospective, observational study, we enrolled 6 patients with chronically active myocarditis treated with anakinra on-top-of standard treatment. Response to treat...

VEXAS is a prototypic hemato‐inflammatory disease combining rheumatologic and hematologic disorders in a molecularly defined nosological entity. In this nationwide study, we aimed at screenshotting the current diagnostic capabilities and clinical‐genomic features of VEXAS, and tracked UBA1 longitudinal clonal dynamics upon different therapeutics, i...

Objective Still’s disease is more frequently observed in the paediatric context, but a delayed onset is not exceptional both in the adulthood and in the elderly. However, whether paediatric-onset, adult-onset and elderly-onset Still’s disease represent expressions of the same disease continuum or different clinical entities is still a matter of con...

Introduction No head-to-head study has assessed the superiority of tocilizumab versus methotrexate in giant cell arteritis (GCA), and few studies have demonstrated its effectiveness in terms of ultrasonographic findings, but without a control group. The primary endpoint was to assess whether tocilizumab was superior to methotrexate in inducing norm...

Objectives to validate the PEDiatric Behçet’s Disease classification criteria (PEDBD) with an evidence-based approach. Methods 210 pediatric patients (70 Behçet’s disease (BD), 40 Periodic Fever, Aphthous stomatitis, Pharyngitis, Adenitis, 35 familial Mediterranean fever, 26 hyper-IgD syndrome, 22 TNF-Receptor associated Periodic fever Syndrome, 1...

Background Different patient clusters were preliminarily suggested to dissect the clinical heterogeneity in Still’s disease. Thus, we aimed at deriving and validating disease clusters in a multicentre, observational, prospective study to stratify these patients. Methods Patients included in GIRRCS AOSD-study group and AIDA Network Still Disease Re...

This study aims to explore awareness, knowledge, and diagnostic/therapeutic practices in monogenic uveitis (mU) among uveitis experts. This is an explorative, cross-sectional survey study. An anonymous, semi-structured, electronic survey was delivered to uveitis experts from the Autoinflammatory Diseases Alliance (AIDA) Network and International Uv...

To characterize clinical and laboratory signs of patients with Still’s disease experiencing macrophage activation syndrome (MAS) and identify factors associated with MAS development. Patients with Still’s disease classified according to internationally accepted criteria were enrolled in the AutoInflammatory Disease Alliance (AIDA) Still’s Disease R...

Behçet’s disease (BD) is a heterogeneous multifactorial autoinflammatory disease characterized by a plethora of clinical manifestations. Cutaneous lesions are considered hallmarks of the disease. However, their evolution over time and a thorough description are scarcely reported in non-endemic regions. The aim of this study was to detail BD skin ma...

To assess the rate of PMR who, during the follow-up, undergo a diagnostic shift as well as to assess which clinical, laboratory and US findings are associated to a diagnostic shift and predict the long-term evolution of PMR. All PMR followed-up for at least 12 months were included. According to the US procedures performed at diagnosis, patients wer...

Objectives: To describe clinical characteristics of patients with Still's disease treated with methotrexate (MTX) and to assess drug effectiveness evaluating change in disease activity, reduction of inflammatory markers, and glucocorticoid (GC)-sparing effect. Methods: Patients with Still's disease treated with MTX were assessed among those incl...

We performed a comprehensive systematic targeted literature review and used the Delphi method to formulate expert consensus statements to guide the treatment of adult-onset Still's disease (AOSD) to achieve an early and long-term remission. Seven candidate statements were generated and reached consensus in the first round of voting by the panel of...

Background: Anti-cytosolic 5'-nucleotidase 1A (anti-cN1A) antibodies were proposed as a biomarker for the diagnosis of inclusion body myositis (IBM), but conflicting specificity and sensitivity evidence limits its use. Our study aimed to assess the diagnostic accuracy of anti-cN1A in a cohort of patients who underwent a myositis line immunoassay f...

Objectives: To describe the clinical phenotype and response to treatment of autoinflammatory disease (AID) patients with the TNFRSF1A-pR92Q variant compared to patients with tumour necrosis factor receptor-associated periodic syndrome (TRAPS) due to pathogenic mutations in the same gene and patients diagnosed with other recurrent fever syndromes i...

Objectives The aim of this retrospective study was to evaluate baricitinib retention rate in patients affected by rheumatoid arthritis. Secondary aims were to compare the impact on treatment persistence of monotherapy and other variables such as systemic corticosteroid use, line of treatment, disease duration, sex, biomarkers positivity, and Herpes...

Introduction This paper describes the creation and preliminary results of a patient-driven registry for the collection of patient-reported outcomes (PROs) and patient-reported experiences (PREs) in Behçet’s disease (BD). Methods The project was coordinated by the University of Siena and the Italian patient advocacy organization SIMBA (Associazione...

Non-infectious uveitis (NIU) can be an early or even the first extra-articular manifestation of systemic rheumatic diseases, or the first one; thus, rheumatologists are often involved in the diagnostic and therapeutic assessment of NIU. We evaluated 130 patients with a diagnosis of NIU who were admitted to two Italian rheumatologic clinics (Tor Ver...

Introduction: Since the 1990s bDMARDs have revolutionized the treatment of chronic dysimmune inflammatory arthropathies such as Rheumatoid Arthritis, Psoriatic Arthritis and Axial Spondylarthritis. Nevertheless, despite a full treatment regimen, mono- and oligoarticular persistence of the synovitis is sometimes observed. The IA use of bDMARD drugs...

Background Evidence about the effectiveness of the tumor necrosis factor inhibitor adalimumab (ADA) in pediatric patients with non-infectious intermediate uveitis/pars planitis, posterior uveitis and panuveitis is still limited. Objectives Aim of this study is to investigate the therapeutic role of ADA in a cohort of pediatric patients with non-an...

Background Behçet’s syndrome (BS) is an autoinflammatory disease characterized by a variable vessel vasculitis. In children, BS may start early in life, mimicking other autoinflammatory diseases and making the diagnosis challenging. In the past, several criteria have been created for adult BS classification. In 2015, the first set of BS paediatric...

Background Active sacroiliitis represent the radiological hallmark of Ankylosing Spondylitis (Ax-SPA) and manifest as low back pain accompanied by morning stiffness (MS). The pain at rest as well as MS represent the main symptoms that impair patients’ quality of life. The treatment of Ax-SPA rely on non steroidal anti-inflammatory drugs (NSAIDs), m...

Background No definite clinical, laboratory or imaging finding has been identified to predict prognosis and different clinical course of PMR, nor the risk of further relapses. Objectives Primary endpoint was to assess the rate of PMR patients who, during the follow-up, undergo a diagnosis of GCA and arthritis, as well as to assess which clinical,...

Background Treatment with biotechnological anti-interleukin (IL)-1 agents is recommended in patients with Still’s disease especially in cases refractory to glucocorticoids and conventional disease modifying anti-rheumatic drugs (cDMARDs), avoiding a long-term glucocorticoids exposure. In cases with refractory arthritis, IL-6 inhibitors have shown t...

Beckground Despite the recent advances in the field of autoinflammatory diseases, most patients with recurrent fever episodes do not have any defined diagnosis. The present study aims at describing a cohort of patients suffering from apparently unexplained recurrent fever, in whom non-radiographic axial spondylarthritis (SpA) represented the unique...

Background A remarkable variability in the clinical course of Behçet’s Syndrome (BS) seems to arise by comparing cohorts from different geographical areas. However, no data are currently available on the possible variability of organ damage burden, although it is currently recognized as a major outcome in BS. Objectives To evaluate and compare the...

Background Recurrent oral and genital ulcers are the most nagging clinical manifestations of Behcet’s disease (BD) and colchicine should be used first for the treatment and prevention of ulcers relapse. In contrast, TNF-α inhibitors (TNFi) are helpful in resistant cases, leading to a rapid improvement of mucosal lesions [1]. More recently, the phos...

Background Recurrent pericarditis (RP) affects up to 30% of patients after a first episode of acute pericarditis. The effectiveness of anakinra, an IL-1 recombinant receptor antagonist (IL-1r), has been established in recent clinical trials and multicenter studies[1,2].Currently the treatment with anakinra is usually prescribed as a third-line opti...

Background Behçet’s syndrome (BS) is a rare systemic vasculitis hallmarked by oral, genital and ocular involvement, often accompanied by articular, cutaneous, vascular, neurological, and gastrointestinal manifestations [1, 2]. Articular involvement is present in up to 80% of BS patients [3], and, from a clinical point of view, it may resemble seron...

Behçet’s syndrome (BS) is a rare systemic vasculitis characterized by different clinical manifestations. As no specific laboratory tests exist, the diagnosis relies on clinical criteria, and the differential diagnosis with other inflammatory diseases can be challenging. Indeed, in a relatively small proportion of patients, BS symptoms include only...

Introduction: Scientific evidence of the effectiveness of the tumor necrosis factor inhibitor adalimumab (ADA) in pediatric patients with non-infectious non-anterior uveitis is still limited. The aim of this study is to investigate the therapeutic role of ADA in a cohort of pediatric patients with non-anterior uveitis. Methods: This is an intern...

Introduction Based on ACR/EULAR classification criteria, minor salivary glands biopsy (MSGB) is a useful diagnostic tool for the diagnosis of primary Sjögren’s syndrome (SS). The main objective of our study was to evaluate the diagnostic role of MSGB, as well as to highlight correlations between histological findings and autoimmune profiles. Mater...

The presence of interstitial lung disease (ILD) is a common and fearsome feature of idiopathic inflammatory myopathies (IIM). Such patients show radiological pattern of non-specific interstitial pneumonia (NSIP). The present study aimed to assess the prevalence of myositis-specific and myositis-associated antibodies (MSA and MAA) in a cohort of pat...

Objectives: Data on the safety of anti-SARS-CoV-2 vaccines in patients with rare rheumatic diseases, such as systemic vasculitis (SV), are limited. The aim of this study was to evaluate the occurrence of a disease flare and the appearance of adverse events (AEs) following administration of anti-SARS-CoV-2 vaccine in a multicentre cohort of patient...

Rheumatoid arthritis (RA) patients on JAK inhibitors (JAKi) have an increased HZ risk compared to those on biologic DMARDs (bDMARDs). Recently, the Adjuvanted Recombinant Zoster Vaccine (RZV) became available worldwide, showing good effectiveness in patients with inflammatory arthritis. Nevertheless, direct evidence of the immunogenicity of such a...

Objectives: To evaluate the impact of obesity in patients with adult onset Still's disease (AOSD) and to assess their clinical characteristics and disease outcomes. Methods: The clinical features of AOSD patients with a body mass index (BMI) ≥ 30 were assessed among those included in the multicentre Gruppo Italiano di Ricerca in Reumatologia Cli...

Background: Neurologic involvement in Behçet's disease (BD) represents a major cause of disease morbidity and mortality. Early recognition and timely treatment represent crucial aspects that aim at preventing long-term disability. The absence of robust and evidence-based studies further complicates the management of neuro-BD (NBD). In this review...

This study aims to describe musculoskeletal manifestations (MSM) in children with Behçet's syndrome (BS), their association with other disease manifestations, response to therapy, and long-term prognosis. Data were retrieved from the AIDA Network Behçet's Syndrome Registry. Out of a total of 141 patients with juvenile BS, 37 had MSM at disease onse...

Objectives: Systemic sclerosis (SSc) is a disease characterized by diffuse sclerosis of skin and organs and small vessel vasculopathy. Despite it, large vessels can also be involved with ulnar artery vasculopathy, revealing as a more frequent feature of SSc. The aim of this paper is to assess the macrovascular involvement of SSc patients through an...

Introduction : Behçet’s disease (BD) associated uveitis occurs in approximately 50-70% of patients. Ocular involvement in BD may induce a severe affection of visual function, leading to a considerable decrease in patients’ quality of life. The risk for severe visual loss increases when the ocular posterior segment is involved and in patients with n...

Introduction Osteoporosis is the most represented metabolic bone disease and is characterized by the reduction of bone mineral density (BMD), exposing patients to high fracture risk and disability. Bisphosphonates (BPs) are the main compounds exploited in treatment of osteoporosis and significantly reduce fracture risk. Sarcopenia is the pathologic...