Romano, Rosa (2014) Immunedeficiencies: new scenarios in pathogenesis and therapeutic approaches. [Tesi di dottorato]

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The immune system is an interactive network, including lymphoid organs, cells, humoral factors, and cytokines, which works synergistically in host defense from pathogens, such as viruses, bacteria, fungi, and parasites, and other foreign molecules. A disruption of this orchestrated process leads immunedeficiencies, allergy, autoimmune disease and tumors. Primary immunodeficiencies (PIDs) are genetic disorders causing severe defects in different components of immune system. Nowadays, more than 200 well characterized genetic immunedeficiencies have been identified thanks to the advances in molecular genetics and immunology. PIDs are classified according to the component of the immune system that is primarily involved, including T, B, natural killer (NK) cells, phagocytic cells, and complement proteins. Within PIDs, the Severe combined immunodeficiency diseases (SCIDs) represent a spectrum of illnesses with similar clinical manifestations, which can be divided into several categories on the basis of the presence or absence of T cells, B cells and Natural Killer (NK) cells. These are relatively rare diseases, collectively occurring in 1:100.000 live births. In this context, my PhD program has been focused to the study of some Immunological disorders, in order to identify “New Scenarios in Pathogenesis and Therapeutic Approaches”. Particularly, my research has been focused in the study functional role of FOXN1 transcription factor in the T-cell ontogeny, through the new strategy to develop an in vitro thymic organoid and the setting-up of the first phase of in vitro models generation to study this transcription factor by using reprogramming technology. Moreover, my research effort has been devoted to characterization of the role of γc in cell cycle progression and survival of continuous and primary human malignant cell line, clarifying its involvement in leukemogenesis and the molecular mechanism by which this protein promotes tumor growth. In addition, I gave a contribution to better define the mechanisms underlying the pathogenesis of forms of immunedeficiencies leading autoimmunity and cancer, respectively APECED and A-T. Eventually, I participated to description of new clinical phenotype and novel genetic syndrome involving the immune system, opening new scenarios in the molecular mechanisms underlying the immune response. These results obtained during my PhD program could be useful both in the clinical practice and in the basic research of immunedysregulation.

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