Alessandro Tomelleri
Country: Italy
Alessandro Tomelleri is a Consultant Rheumatologist and Clinician-Scientist at IRCCS Ospedale San Raffaele and Vita-Salute San Raffaele University in Milan, Italy.
His research focuses on large vessel vasculitis, autoinflammatory diseases, and vascular imaging.
He is an active member of the OMERACT Ultrasound Working Group, the EULAR GCA-PMR Study Group, and the Società Italiana di Reumatologia (SIR).
Within EMEUNET, he belongs to the Visibility & Global Affairs Sub-Committee.
| Oral – OP0321 | Thursday, 05.06.2026 08:15 AM Basic and Clinical Abstract Sessions: Novelties in Autoinflammatory Diseases Author: P. Chen (France) Title: Recurrent somatic mutations in KRAS drive a specific autoinflammatory phenotype associated with myeloid neoplasms  This study identifies somatic KRAS gain-of-function mutations as a novel driver of systemic autoinflammation in the context of chronic myelomonocytic leukaemia (CMML). Among 285 CMML patients, KRAS mutations were strongly enriched in those with concomitant inflammatory disease (64% vs 25%). The resulting phenotype (serositis, aortitis, NLRP3 inflammasome activation) is refractory to conventional immunosuppression but may respond to IL-1 blockade or MEK inhibitors, expanding the therapeutic landscape of VEXAS-like syndromes. |
| Oral – OP0322 | Thursday, 05.06.2026 08:25 AM Basic and Clinical Abstract Sessions: Novelties in Autoinflammatory Diseases Author:: R. Guo (China) Title: Cytokine-Defined Endotypes in Adult-Onset Still’s Disease Validated by Integrated Immune Profiling with Implications for Targeted Therapy Cytokine profiling of 144 AOSD patients identified three immunologically distinct endotypes: IL-1β-dominant, hyperinflammatory (IL-6/IL-8/IFNγ-high), and hypo-inflammatory, validated in an independent prospective cohort of 124 patients. The hyperinflammatory endotype carried higher MAS frequency and disease severity. Immunophenotyping and imaging mass cytometry revealed endotype-specific T-cell and hepatic immune signatures. This framework provides the first validated basis for cytokine-guided biologic selection in AOSD, directly informing precision medicine approaches in clinical practice. |
| Oral – OP0321 | Thursday, 05.06.2026 09:25 AM Basic and Clinical Abstract Sessions: Novelties in Autoinflammatory Diseases Author: E. Bektas (Türkiye) Title: Exploring genetic variants associated with monogenic autoinflammatory diseases using next-generation sequencing with a targeted gene panel in Still’s disease In 34 patients with Still’s disease screened with a 41-gene NGS autoinflammatory panel, 19 (55.9%) carried variants in monogenic AID-associated genes – most commonly MEFV, NLRP3, NOD2, and IFIH1 – with several patients carrying more than one variant simultaneously. Variant carriers showed a trend toward more serositis, pericarditis, and hyperferritinaemia compared to non-carriers. The predominance of variants of uncertain significance underscores the interpretative challenges, but reinforces the genetic complexity underlying Still’s disease and the potential diagnostic value of broad panel testing. |
| Poster Tour – POS0110 | Wednesday, 04.06.2026 13:48 PM Basic and Clinical Poster Tours: Updates on autoinflammatory diseases – Poster Tour I Author: J. Chauffier (France) Title: Unraveling heterogeneity in Undifferentiated Systemic Autoinflammatory Disease (USAID): a cluster-based study in a French cohort of 150 adult patients In 150 adult USAID patients from the French reference centre CeReMAIA, cluster analysis identified four distinct phenotypic patterns: orofacial symptoms; urticaria and abdominal pain with short flares; rheumatologic involvement; and male-predominant neutrophilic dermatoses. Treatment response was limited overall, but colchicine showed notable efficacy in cluster 2 (72%) and JAK inhibitors in cluster 4. This phenotype-based stratification offers a practical framework for guiding therapeutic decisions in genetically unresolved autoinflammatory disease. |
| Poster Tour – POS0763 | Wednesday, 04.06.2026 14:50 PM Poster View III Author: Y. Kirino (Japan) Title:Peripheral Blood UBA1 Variant Allele Frequency Predicts Poor Outcomes in VEXAS Syndrome: A Nationwide Prospective Study In this nationwide prospective Japanese registry of 60 patient with VEXAS, baseline UBA1 variant allele frequency (VAF) independently predicted the composite outcome of death or transfusion dependency at one year, alongside prednisolone dose. Grade ≥3 adverse events occurred in 50% within 12 months. Validated in an independent retrospective cohort, VAF emerges as the first prospectively confirmed prognostic biomarker in VEXAS, with direct implications for risk stratification and treatment intensity decisions. |