A5052641999- CAR-T cell therapy research
- Inflammasome and immune disorders
- Immune Cell Function and Interaction
- T-cell and B-cell Immunology
- Hematopoietic Stem Cell Transplantation
- Autoimmune and Inflammatory Disorders Research
- Cytomegalovirus and herpesvirus research
- CRISPR and Genetic Engineering
- Gout, Hyperuricemia, Uric Acid
- Herpesvirus Infections and Treatments
- Eosinophilic Esophagitis
- Parvovirus B19 Infection Studies
- Immunodeficiency and Autoimmune Disorders
- Atherosclerosis and Cardiovascular Diseases
- IL-33, ST2, and ILC Pathways
- Adenosine and Purinergic Signaling
- Glioma Diagnosis and Treatment
- Neurofibromatosis and Schwannoma Cases
- Biomedical Ethics and Regulation
- Single-cell and spatial transcriptomics
- Meningioma and schwannoma management
- Vestibular and auditory disorders
- Lysosomal Storage Disorders Research
- Endoplasmic Reticulum Stress and Disease
- interferon and immune responses
Vita-Salute San Raffaele University
2020-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2013-2025
Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele
2020-2024
The San Raffaele Telethon Institute for Gene Therapy
2024
IRCCS Ospedale San Raffaele
2019-2023
San Raffaele University of Rome
2021-2023
Istituto Giannina Gaslini
2011-2022
University of Genoa
2017
University Medical Center Utrecht
2017
Université Paris Cité
2015
Objective Mevalonate kinase deficiency (MKD) is a rare metabolic disease characterized by recurrent inflammatory episodes. This study was undertaken to describe the genotype, phenotype, and response treatment in an international cohort of MKD patients. Methods All cases were extracted from Eurofever registry (Executive Agency for Health Consumers project no. 2007332), international, multicenter that retrospectively collects data on children adults with autoinflammatory diseases. Results The...
Lymphodepletion (LD) or conditioning is an essential step in the application of currently used autologous and allogeneic chimeric antigen receptor T-cell (CAR-T) therapies as it maximizes engraftment, efficacy long-term survival CAR-T. Its main modes action are depletion modulation endogenous lymphocytes, microenvironment for improved CAR-T expansion persistence, reduction tumor load. However, most LD regimens provide a broad fairly unspecific suppression T-cells well other hematopoietic...
Abstract Systemic Lupus Erythematosus (SLE) is a progressive disease leading to immune-mediated tissue damage, associated with an alteration of lymphoid organs. Therapeutic strategies involving regulatory T (Treg) lymphocytes, which physiologically quench autoimmunity and support long-term immune tolerance, are considered, as conventional treatment often fails. We describe here therapeutic strategy based on Tregs overexpressing FoxP3 harboring anti-CD19 CAR (Fox19CAR-Tregs). Fox19CAR-Tregs...
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...
T cell receptor (TCR)–based therapy has the potential to induce durable clinical responses in patients with cancer by targeting intracellular tumor antigens high sensitivity and promoting survival. However, need for TCRs specific shared oncogenic manufacturing protocols able redirect specificity while preserving fitness remain limiting factors. By longitudinal monitoring of functionality dynamics 15 healthy donors, we isolated 19 Wilms’ antigen 1 (WT1), which is overexpressed several types....
Objective. Our aims were to validate the pediatric diagnostic criteria in a large international registry and compare them with performance of previous for diagnosis familial Mediterranean fever (FMF). Methods. Pediatric patients FMF from Eurofever used validation existing criteria. The other periodic fevers served as controls: mevalonate kinase deficiency (MKD), tumor necrosis factor receptor–associated syndrome (TRAPS), cryopyrin-associated (CAPS), aphthous stomatitis, pharyngitis, adenitis...
Objective Memory stem T (Tscm) cells are long‐lived, self‐renewing that play a relevant role in immunologic memory. This study was undertaken to investigate whether Tscm accumulate rheumatoid arthritis ( RA ). Methods The polarization and differentiation profiles of circulating were assessed by flow cytometry. Antigen‐specific characterized staining with major histocompatibility complex class II tetramers. cell receptor TCR ) repertoire analyzed high‐throughput sequencing using an unbiased...
Mucopolysaccharidosis type I Hurler (MPSIH) is characterized by severe and progressive skeletal dysplasia that not fully addressed allogeneic hematopoietic stem cell transplantation (HSCT). Autologous progenitor cell–gene therapy (HSPC-GT) provides superior metabolic correction in patients with MPSIH compared HSCT; however, its ability to affect manifestations unknown. Eight (mean age at treatment: 1.9 years) received lentiviral-based HSPC-GT a phase 1/2 clinical trial (NCT03488394)....
Abstract Background The αvβ6- and αvβ8-integrins, two cell-adhesion receptors upregulated in many solid tumors, can promote the activation of transforming growth factor-β (TGFβ), a potent immunosuppressive cytokine, by interacting with RGD sequence latency-associated peptide (LAP)/TGFβ complex. We have previously described chromogranin A-derived peptide, called “peptide 5a ”, which recognizes RGD-binding site both αvβ6 αvβ8 high affinity selectivity, efficiently accumulates or αvβ8-positive...
After allogeneic hematopoietic stem cell transplantation (HSCT), the emergence of circulating cytomegalovirus (CMV)- specific T cells correlates with protection from CMV reactivation, an important risk factor for non-relapse mortality. However, functional assays measuring CMV-specific are time-consuming and often inaccurate at early time-points. We report results a prospective single-center, non-interventional study that identified enumeration Dextramerpositive lymphocytes as reliable...
Emapalumab, a fully human anti-IFNγ monoclonal antibody, has been approved in the US as second-line treatment of primary hemophagocytic lymphohistiocytosis (HLH) patients and shown promise with graft failure (GF) requiring second allogeneic hematopoietic stem cell transplantation (HSCT). The blockade IFNγ activity may increase risk severe infections, including fatal mycobacteriosis. We report case secondary HLH-related GF context HLA-haploidentical HSCT successfully treated emapalumab...
The phenotype of infused cells is a major determinant Adoptive T-cell therapy (ACT) efficacy. Yet, the difficulty in deciphering multiparametric cytometry data limited fine characterization cellular products. To allow analysis dynamic and complex flow samples, we developed cytoChain, novel dataset mining tool new analytical workflow. CytoChain was challenged to compare state-of-the-art innovative culture conditions generate stem-like memory (TSCM ) suitable for ACT. Noticeably, combination...
Mevalonate kinase deficiency (MKD) is a rare autoinflammatory syndrome, characterized by febrile episodes and generalized inflammation.
Objective The aim of this study was to assess whether circulating histone‐specific T cells represent tools for precision medicine in systemic lupus erythematosus (SLE). Methods Seroprevalence autoantibodies and HLA‐DR beta (DRB) 1 profile were assessed among 185 patients with SLE combined bioinformatics literature evidence identify HLA–peptide autoepitope couples ex vivo detection antigen‐specific through flow cytometry. cell differentiation polarization investigated SLE, Takayasu arteritis,...
Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disease associated with a highly variable clinical presentation, including vasculitis, immunodeficiency, and hematologic manifestations, potentially progressing over time. The present study describes the long-term evolution immuno-hematological features therapeutic challenge two identical adult twin sisters affected by DADA2. absence plasmatic (ADA2) activity in both twins suggested diagnosis DADA2, then confirmed genetic...
Background Red ear syndrome (RES), first described by Lance in 1996 an adult series, may be primary or associated with headache syndromes, upper cervical disorders vascular anomalies. Clinically the disease is characterised recurrent episodes of reddening and burning pain auricle, usually elicited different triggers. The prevalence RES paediatric age group remains poorly understood. Several therapeutic approaches have been tried heterogeneous clinical response. Case results We report a...
Methods MVK gene was analyzed in 950 consecutive patients with periodic fever. 40 MKD were identified. Spontaneous disease course classified as follows: i) resolution (no episodes the last 6 months), ii) improvement (reduction of more then 30% fever episodes) iii) stationary iv) worsening (increase frequency or appearance new major clinical manifestation).The Child Health Questionnaire (CHQPF 50) used to assess health related quality life (HRQL). An international sample 3315 healthy children...
Very low birth weight infants are at risk of developing periventricular white matter lesions. We previously reported high blood adenosine levels in premature and with weight. asked whether could be related to the vulnerability maturing develop The present study aims finding a biomarker for early detection brain lesions that can profoundly influence neurodevelopmental outcome, whose pathophysiology is still unclear. Dried spots were prospectively collected newborn screening program...