Roberta Caorsi
A5036785123- Inflammasome and immune disorders
- Autoimmune and Inflammatory Disorders Research
- Immunodeficiency and Autoimmune Disorders
- Kawasaki Disease and Coronary Complications
- IL-33, ST2, and ILC Pathways
- Adenosine and Purinergic Signaling
- Systemic Lupus Erythematosus Research
- Immune Cell Function and Interaction
- COVID-19 Clinical Research Studies
- Osteomyelitis and Bone Disorders Research
- Diabetes and associated disorders
- interferon and immune responses
- Cytomegalovirus and herpesvirus research
- Blood disorders and treatments
- Immune Response and Inflammation
- Mechanical Circulatory Support Devices
- Gout, Hyperuricemia, Uric Acid
- Hematological disorders and diagnostics
- Orthopedic Infections and Treatments
- Eosinophilic Disorders and Syndromes
- Urticaria and Related Conditions
- Adolescent and Pediatric Healthcare
- Parvovirus B19 Infection Studies
- Vasculitis and related conditions
- Peptidase Inhibition and Analysis
Istituto Giannina Gaslini
2016-2025
University of Genoa
2008-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2016-2025
Federico II University Hospital
2024
Centre Hospitalier de Versailles
2023
Essen University Hospital
2023
National Pirogov Memorial Medical University, Vinnytsya
2023
Hôpital de l'enfance
2023
University Hospital of Lausanne
2023
Klinik für Schlafmedizin
2023
Background: The aim of the study was to document cardiovascular clinical findings, cardiac imaging, and laboratory markers in children presenting with novel multisystem inflammatory syndrome associated coronavirus disease 2019 (COVID-19) infection. Methods: This real-time internet-based survey has been endorsed by Association for European Paediatric Congenital Cardiologists Working Groups Cardiac Imaging Cardiovascular Intensive Care. Children 0 18 years age admitted a hospital between...
<h3>Objectives</h3> To analyse the prevalence of <i>CECR1</i> mutations in patients diagnosed with early onset livedo reticularis and/or haemorrhagic/ischaemic strokes context inflammation or polyarteritis nodosa (PAN). Forty-eight from 43 families were included study. <h3>Methods</h3> Direct sequencing was performed by Sanger analysis. Adenosine deaminase 2 (ADA2) enzymatic activity analysed monocyte isolated and healthy controls incubated adenosine without an ADA1 inhibitor....
Microbial nucleic acid recognition serves as the major stimulus to an antiviral response, implying a requirement limit misrepresentation of self acids non-self and induction autoinflammation. By systematic screening using panel interferon-stimulated genes we identify two siblings singleton variably demonstrating severe neonatal anemia, membranoproliferative glomerulonephritis, liver fibrosis, deforming arthropathy increased anti-DNA antibodies. In both families biallelic mutations in DNASE2,...
There is mounting evidence on the existence of a Pediatric Inflammatory Multisystem Syndrome-temporally associated to SARS-CoV-2 infection (PIMS-TS), sharing similarities with Kawasaki Disease (KD). The main outcome study were better characterize clinical features and treatment response PIMS-TS explore its relationship KD determining whether PIMS are two distinct entities.The Rheumatology Study Group Italian Society launched survey enroll patients diagnosed (Kawasaki - KDG) or KD-like...
NLRP12 mutations have been described in patients affected with peculiar autoinflammatory symptoms. This study was undertaken to characterize syndromes, particularly a novel missense mutation, p.D294E, affecting protein sequence crucial for ATP binding, which identified Caucasian family familial cold-induced syndrome some members.Fifty were tested mutations. A the p.D294E mutation of members clinically characterized. In vitro analysis effects on NF-κB activity performed HEK 293 cells after...
To analyze whether there were clinical differences between genetically positive and negative patients fulfilling periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) syndrome criteria to test the accuracy of Gaslini diagnostic score for identifying with PFAPA higher probabilities carrying relevant mutations in genes associated fevers.Complete genetic information was available 393 children fever; 82 had results, 75 incomplete 236 results MVK, TNFRSF1A, MEFV mutations....
In healthy monocytes, Toll-like receptor (TLR) engagement induces production of reactive oxygen species (ROS), followed by an antioxidant response involved in IL-1β processing and secretion. Markers the include intracellular thioredoxin extracellular release reduced cysteine. Cryopyrin-associated periodic syndromes (CAPS) are autoinflammatory diseases which Nod-like family pyrin domain–containing 3 ( NLRP3) gene mutations lead to increased We show a large cohort patients that secretion CAPS...
BackgroundIL-1 plays a pivotal role in the inflammatory response during cytokine storm syndromes.ObjectiveOur aim was to analyze efficacy and safety of early anti-inflammatory treatment (AIT) with intravenous anakinra or without glucocorticoids coronavirus disease 2019 (COVID-19) pneumonia.MethodsWe performed retrospective single-center cohort study patients admitted for COVID-19 pneumonia from February 26 April 29, 2020, assess AIT (100 mg every 8 hours 3 days, tapering) alone combination...
To analyze the long-term impact of R92Q mutation TNFRSF1A in children with periodic fever, comparison tumor necrosis factor receptor-associated syndrome (TRAPS) structural mutations and fever unknown origin fulfilling criteria for aphthosis, pharyngitis, adenitis (PFAPA).The extracellular region was analyzed 720 consecutive using denaturing high-performance liquid chromatography DNA sequencing. Followup data on 11 pediatric patients (cysteine or T50M), 23 an substitution, 64 PFAPA were...
<h3>Objectives</h3> Systemic auto-inflammatory disorders (SAIDs) are a heterogeneous group of monogenic diseases sharing primary dysfunction the innate immune system. More than 50% patients with SAID does not show any mutation at gene(s) tested because lack precise clinical classification criteria and/or incomplete gene screening. To improve molecular diagnosis and genotype interpretation SAIDs, we undertook development next-generation sequencing (NGS)-based protocol designed to simultaneous...
Hereditary recurrent fevers (HRF) are a group of rare monogenic diseases leading to inflammatory flares. A large number variants has been described for the four genes associated with best known HRF, namely MEFV, NLRP3, MVK, TNFRSF1A. The Infevers database ( http://fmf.igh.cnrs.fr/ISSAID/infevers ) is international registry collecting reported in these genes. However, no genotype-phenotype associations provided, but only clinical phenotype first patient(s) each mutation. aim this study...
The number of innate immune system disorders classified as systemic autoinflammatory diseases (SAID) has increased in recent years. More than 70% patients with clinical manifestations SAID did not receive a molecular diagnosis, thus being classed so-called undifferentiated or undefined (uSAID). aim the present study was to evaluate next-generation sequencing (NGS)-based clinically oriented protocol uSAID.We designed NGS panel that included 41 genes clustered seven subpanels. Patients uSAID...