A5012232029- CAR-T cell therapy research
- Immune Cell Function and Interaction
- CRISPR and Genetic Engineering
- Immunodeficiency and Autoimmune Disorders
- T-cell and B-cell Immunology
- FOXO transcription factor regulation
- Virus-based gene therapy research
- Diabetes and associated disorders
- RNA Interference and Gene Delivery
- Congenital heart defects research
- Aging and Gerontology Research
- Cystic Fibrosis Research Advances
- Adrenal Hormones and Disorders
- DNA Repair Mechanisms
- Transgenic Plants and Applications
- Skin and Cellular Biology Research
- Immune Response and Inflammation
- Genetics and Neurodevelopmental Disorders
- Cytomegalovirus and herpesvirus research
- Technology Use by Older Adults
- Carcinogens and Genotoxicity Assessment
- Biochemical and Structural Characterization
- Healthcare Facilities Design and Sustainability
- Innovative Approaches in Technology and Social Development
- Pluripotent Stem Cells Research
Stanford University
2019-2021
Stanford Medicine
2019-2021
Newcastle University
2020
National Pingtung University
2020
SGH Warsaw School of Economics
2020
Teikyo University
2020
Fukuda Denshi (Japan)
2020
Uniwersytet Komisji Edukacji Narodowej w Krakowie
2020
Federico II University Hospital
2002-2019
Karolinska Institutet
2016-2017
In this study, we describe four patients from two unrelated families of different ethnicities with a primary immunodeficiency, predominantly manifesting as susceptibility to Epstein-Barr virus (EBV)–related diseases. Three presented EBV-associated Hodgkin’s lymphoma and hypogammaglobulinemia; one also had severe varicella infection. The fourth viral encephalitis during infancy. Homozygous frameshift or in-frame deletions in CD70 these abolished either surface expression binding its cognate...
T cell ontogeny is a sophisticated process, which takes place within the thymus through series of well-defined discrete stages. The process requires proper lympho-stromal interaction. In particular, cortical and medullary thymic epithelial cells (cTECs, mTECs) drive differentiation, education selection processes, while thymocyte-dependent signals allow TECs to maturate provide an appropriate microenvironment. Alterations in genes implicated organogenesis, including Tbx1, Pax1, Pax3, Pax9,...
Genome-editing technologies that enable the introduction of precise changes in DNA sequences have potential to lead a new class treatments for genetic diseases. Epidermolysis bullosa (EB) is group rare disorders characterized by extreme skin fragility. The recessive dystrophic subtype EB (RDEB), which has one most severe phenotypes, caused mutations COL7A1. In this study, we report gene-editing approach ex vivo homology-directed repair (HDR)-based gene correction uses CRISPR-Cas9 system...
Type 1 regulatory T (Tr1) cells are subset of peripherally induced antigen-specific cells. IL-10 signaling has been shown to be indispensable for polarization and function Tr1 However, the transcriptional machinery underlying human cell differentiation is not yet elucidated. To this end, we performed RNA sequencing on ex vivo CD49b + LAG3 We identified transcription factor, BHLHE40, highly expressed in Even though characteristically produce high levels IL-10, found that BHLHE40 represses...
Abstract In humans, the thymus is primary lymphoid organ able to support development of T cells through its three-dimensional (3D) organization thymic stromal cells. Since a remarkable number similarities are shared between epithelial (TECs) and skin-derived keratinocytes fibroblasts, in this study we used human seeded with fibroblasts on 3D poly ε-caprolactone scaffold evaluate their ability replace TECs supporting T-cell differentiation from haematopoietic stem (HSCs). We observed that...
B cells are the antibody-producing arm of adaptive immune system and play a critical role in controlling pathogens. Several groups have now demonstrated feasibility using engineered as therapy, including infectious disease control gene therapy serum deficiencies. These studies largely utilized ex vivo modification cells. Direct engineering would be utility to field, particularly where infrastructure needs cell make broad vaccination campaign highly challenging. In this study we demonstrate...
Abstract Interleukin-12 (IL-12) is involved in cellular immune responses against intracellular pathogens by promoting the generation of T naive helper 1 (Th1) cells and increasing interferon-gamma (IFN-gamma) production from natural killer (NK) cells. A defective induction a Th1 response may lead to higher risk infections, and, particular, infections due typical atypical Mycobacteria . We report on case girl with suffering recurrent bronchopneumonia associated very high serum IgE levels, who...
The γ-chain (γc) is a transducing element shared between several cytokine receptors whose alteration causes X-linked severe combined immunodeficiency. Recently, direct involvement of γc in self-sufficient growth concentration-dependent manner was described, implying relationship the amount molecule and its role cell cycle progression. In this study, we evaluate whether expression could interfere progression also malignant hematopoietic cells. Here, first report that absence expression,...
Abstract We report on a child with de novo deletion of approximately 12 Mb detected through array comparative genomic hybridization (CGH). The involved chromosome bands 13q12.3–13q14.11 and determined the loss ≥50 genes. A second 12p11.3p11.22 43–167 kb, including about genes, was unlikely clinical relevance because inherited from asymptomatic father. had developmental delay, dysmorphisms, many features reminiscent ataxia‐telangiectasia (A‐T), as cerebellar ataxia, oculocutaneus...
The thymus is the primary organ able to support T cell ontogeny, abrogated in FOXN1(-/-) human athymia. Although evidence indicates that animal models lymphocytes may differentiate at extrathymic sites, whether this process really thymus-independent has still be clarified. In an athymic fetus, which we previously described a total blockage of CD4(+) and partial CD8(+) development, investigated intestine could play role as site T-lymphopoiesis humans. We document presence few extrathymically...