Saverio La Bella
Saverio is a resident in Pediatric Rheumatology at the IRCCS Istituto Giannina Gaslini in Genova, Italy. His research interests include autoinflammatory diseases, the application of AI tools, and the use of media platforms as educational platforms in pediatric rheumatology. He is a member of the PReS Young Investigators group.
Saverio is a member of the social media sub-committee of EMEUNET.
| Poster POS0381 | Saturday 14.06.2025 10:30 AM Poster Tour II Author: Byram, K (Czech Republic) Title: Development of a disease activity index for the assessment of VEXAS syndrome (VEXAS-DAI)  This study presents the development of the VEXAS Disease Activity Index (VEXAS-DAI), a consensus-based tool encompassing 12 clinical domains to quantify inflammation severity in VEXAS syndrome. Created via Delphi methodology and expert input, the VEXAS-DAI aims to standardize disease activity assessment and will undergo validation in upcoming clinical trials. |
| Oral OP0286 | Friday 13.06.2025 11:00 AM Basic and Clinical Abstract Sessions: New pathogenic mechanisms and clinical aspects of autoinflammatory diseases Author: Chen, L (China) Title: A gain-of-function mutation in RIPK3 causes a new autoinflammatory disease This study identifies a novel gain-of-function mutation (p.Q134K) in the RIPK3 gene in a family with systemic autoinflammatory disease (AID). The mutation enhances necroptosis and activates inflammatory pathways including NF-κB and MAPK, leading to elevated inflammatory cytokines. Inhibitors targeting RIPK3 or pathways reversed the gene expression in vitro. This research establishes a novel link between RIPK3 mutations and AIDs. |
| Poster OP0288 | Friday 13.06.2025 11:20 Basic and Clinical Abstract Sessions: New pathogenic mechanisms and clinical aspects of autoinflammatory diseases Author: Savey, L (France) Title: Pregnancy Outcomes in Autoinflammatory Diseases: A prospective study of 117 cases, including 79 with familial Mediterranean fever This large prospective cohort study of 115 pregnancies in patients with autoinflammatory diseases highlights the risks during pregnancy. During FMF, there was more recourse to assisted reproduction, 17% preterm delivery and 22.4% intrauterine growth retardation, which are higher than the figures for the general French population. These outcomes underscore the need for vigilant multidisciplinary monitoring to optimize maternal and fetal health. |
| Poster POS0379 | Saturday 14.06.2025 10:25 Poster Tour II Author: Beck, D.B (USA) Title: PAXIS: a randomized, double-blind, placebo-controlled, dose finding phase 2 study (part 1) followed by an open-label period (part 2) to assess the efficacy and safety of pacritinib in patients with VEXAS syndrome By targeting IRAK1, JAK2 and ACVR1, pacritinib may offer a steroid-sparing alternative in patients with VEXAS syndrome. This study assesses clinical response, glucocorticoid tapering, hematologic outcomes, and safety, aiming to establish a new therapeutic standard for this complex autoinflammatory disease. |
| Oral OP0290 | Friday 13.06.2023 11:40 Basic and Clinical Abstract Sessions: New pathogenic mechanisms and clinical aspects of autoinflammatory diseases Author: Georgin-Lavialle, S (France) Title: SITRAME Syndrome: Insights from 46 Patients: The Largest Cohort Study of a Novel Systemic Autoinflammatory Disease This study reports the largest cohort to date of patients with SITRAME syndrome, including 46 adult patients. Flares lasted about 3 days and occurred 1–20 times per year. Common symptoms included rash, fever, fatigue, and arthralgia. No serious complications were observed, and colchicine was effective in some cases. The syndrome appears more common than initially thought and requires further research. |