A5079738648- Immunodeficiency and Autoimmune Disorders
- Bone Metabolism and Diseases
- Immune Cell Function and Interaction
- T-cell and B-cell Immunology
- Bone health and treatments
- CAR-T cell therapy research
- Virus-based gene therapy research
- Cell Adhesion Molecules Research
- NF-κB Signaling Pathways
- CRISPR and Genetic Engineering
- Connective tissue disorders research
- Immune Response and Inflammation
- Cellular Mechanics and Interactions
- Cytomegalovirus and herpesvirus research
- Immunotherapy and Immune Responses
- Trace Elements in Health
- Cytokine Signaling Pathways and Interactions
- Dermatological and Skeletal Disorders
- Pluripotent Stem Cells Research
- RNA Interference and Gene Delivery
- Metabolism and Genetic Disorders
- Blood disorders and treatments
- Digestive system and related health
- Neurogenetic and Muscular Disorders Research
- Platelet Disorders and Treatments
Institute of Genetic and Biomedical Research
2016-2025
The San Raffaele Telethon Institute for Gene Therapy
2016-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2015-2024
Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele
2015-2024
National Research Council
2014-2024
Istituto Nazionale di Statistica
2024
Sapienza University of Rome
2023
Unilever (United States)
2023
National Academies of Sciences, Engineering, and Medicine
2013-2022
University of Milano-Bicocca
2006-2022
Wiskott-Aldrich syndrome (WAS) is an inherited immunodeficiency caused by mutations in the gene encoding WASP, a protein regulating cytoskeleton. Hematopoietic stem/progenitor cell (HSPC) transplants can be curative, but, when matched donors are unavailable, infusion of autologous HSPCs modified ex vivo therapy alternative approach. We used lentiviral vector functional WASP to genetically correct from three WAS patients and reinfused cells after reduced-intensity conditioning regimen. All...
Preclinical studies establish the conditions for safe and effective correction of SCID-X1 by targeted gene editing hematopoietic stem cells.
Wiskott-Aldrich syndrome is a rare, life-threatening, X-linked primary immunodeficiency characterised by microthrombocytopenia, infections, eczema, autoimmunity, and malignant disease. Lentiviral vector-mediated haemopoietic stem/progenitor cell (HSPC) gene therapy potentially curative treatment that represents an alternative to allogeneic HSPC transplantation. Here, we report safety efficacy data from interim analysis of patients with severe who received lentiviral vector-derived therapy.We...
Long-range gene editing by homology-directed repair (HDR) in hematopoietic stem/progenitor cells (HSPCs) often relies on viral transduction with recombinant adeno-associated vector (AAV) for template delivery. Here, we uncover unexpected load and prolonged persistence of AAV genomes their fragments, which trigger sustained p53-mediated DNA damage response (DDR) upon recruiting the MRE11-RAD50-NBS1 (MRN) complex inverted terminal repeats (ITRs). Accrual cell-cycle-arrested HSPCs led to its...
ABSTRACT Fourier transform infrared and Raman microspectroscopy are currently being developed as new methods for the rapid identification of clinically relevant microorganisms. These involve measuring spectra from microcolonies which have been cultured little 6 h, followed by nonsubjective microorganisms through use multivariate statistical analyses. To examine biological heterogeneity microorganism growth is reflected in spectra, measurements were acquired various positions within...
Among 94 osteopetrotic patients presenting with a severe clinical picture and diagnosed early in life, 12 bore mutations the ClCN7 gene, but only 7 of them had expected two recessive mutations. The remaining five seem to be heterozygous for mutation, significant variations were observed manifestations their disease, even within same family.Human osteopetroses are heterogeneous group diseases that include both infantile severe, autosomal (ARO) adult dominant (ADO) forms. Two genes, Atp6a3...
This study illustrates that Plekhm1 is an essential protein for bone resorption, as loss-of-function mutations were found to underlie the osteopetrotic phenotype of incisors absent rat well intermediate type human osteopetrosis. Electron and confocal microscopic analysis demonstrated monocytes from a patient homozygous mutation differentiated into osteoclasts normally, but when cultured on dentine discs, failed form ruffled borders showed little evidence resorption. The presence both RUN...
A large proportion of Wiskott-Aldrich syndrome (WAS) patients develop autoimmunity and allergy. CD4+CD25+FOXP3+ natural regulatory T (nTreg) cells play a key role in peripheral tolerance to prevent immune responses self-antigens allergens. Therefore, we investigated the effect WAS protein (WASP) deficiency on distribution suppressor function nTreg cells. In WAS−/− mice, steady-state phenotype thymus spleen were normal. However, engrafted poorly immunized indicating perturbed homeostasis....
Wiskott-Aldrich Syndrome (WAS) is a severe X-linked Primary Immunodeficiency that affects 1-10 out of 1 million male individuals. WAS caused by mutations in the Protein (WASP) expressing gene leads to absent or reduced expression protein. WASP cytoplasmic protein regulates formation actin filaments hematopoietic cells. deficiency causes many immune cell defects both humans and murine model, Was(-/-) mouse. Both cellular humoral patients contribute onset clinical manifestations, particular...
γδ T cells account for a large fraction of human intestinal intraepithelial lymphocytes (IELs) endowed with potent antitumor activities. However, little is known about their origin, phenotype, and clinical relevance in colorectal cancer (CRC). To determine IEL gut specificity, homing, functions, were purified from healthy blood, lymph nodes, liver, skin, intestine, either disease-free, affected by CRC, or generated thymic precursors. The constitutive expression NKp46 specifically identifies...