Imunofenotypové a funkční charakteristiky lymfocytů pacientů s primární imunodeficiencí

Bakardjieva, Marina

Primary immunodeficiencies (PIDs) are a heterogeneous group of over 480 genetically inherited disorders of the immune system that result from a block in leukocyte development or functional defects in the immune response. PIDs have a wide range of symptoms including increased susceptibility to infections but also autoimmunity or malignancy. Detailed knowledge of PIDs is essential not only in the clinical/diagnostic field, but also in basic research, as they can serve as model systems for the study of the immune system. The first part of the thesis focuses on the use of the SCID-RTE cytometric test, which we developed within the EuroFlow consortium, as a diagnostic tool for detection of patients suspected of severe PID. Based on the parameters studied (levels of naive CD4+ and CD8+ T cells, recent thymic emigrants and the activation status), we have demonstrated that the SCID-RTE tube is a sensitive test suitable for patients clinically suspected of PID, identified within the broader EuroFlow diagnostic algorithm, or the national newborn screening program. Next, within EuroFlow, we provided a sensitive immunophenotypic evaluation of B cell subset alterations in patients with predominantly antibody deficiencies (PADs), including the expression of distinct immunoglobulin subclasses on memory B cells...

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