Abstract
The thymus continues to be a neglected organ, both in research and in clinical practice. Compared to bone marrow, in which intrinsic diseases and deleterious effects of drugs have been well explored, thymus has not received equivalent attention. This project continues a previous one named “Early-onset autoimmunity” (FAPESP grant 2008/58234-4), in which one of the subprojects dealt with functional study of thymus, and allowed assessment of the organ function in patients with Down syndrome and DiGeorge syndrome (22q11.2 deletion), two human chromosomopathies with thymic dysfunction. Considering: i) the numerous series of well-characterized patients followed-up at the Instituto da Criança, ii) access to a large number of thymus specimens, iii) availability of methods for morphological and functional study of the organ [measurement of TRECs (thymic recent emigrant cells) imaging techniques in clinical practice, microscopy, flow cytometry, gene expression platform, bioinformatics], in this new project, we intend to perform: 1) Morphological and functional assessment of thymus in healthy infants and children of various ages; 2) Study of global gene expression in the thymus, as well as network of interactions between genes in infants and children of various ages and in infants and children with Down syndrome (DS); 3) Characterization of B lymphocyte subpopulations in thymus of children of various ages with congenital heart disease as an isolated malformation, and in DS children; 4) Evaluation of phenotype-genotypic relationship and characterization of immune alterations in patients with typical and atypical 22q11.2 deletion; 5) Evaluation of morphological and functional thymic changes in children with primary immunodeficiencies and systemic autimmune diseases undergoing immunosuppressive therapy. It is expected to bring contributions to better knowledge of human thymus development as well as for pathophysiology of some primary and secondary thymic diseases, that may open possibilities for optimal management of affected patients. A new program of thymus transplant should be implemented at Instituto da Criança. It is also expected to simulate the interest of the physicians in the clinical exploration of the thymus. (AU)
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