Research aim

The aim of research projects in the field of primary immunodeficiencies (PIDs) is the study of immune processes altered as a result of inborn genetic disorders.

DiGeorge syndrome

This research project is focused on a cohort of patients with diGeorge syndrome, trying to map the immune system in these patients with thymic dysplasia of various degrees. Aside from evaluating the development of T-lymphocytes, we also examine the development of other cell lines, such as B-lymphocytes, but also cells of the innate immunity. A new and exciting sub-project is focused directly on analysis of thymic tissue and its function both in general and in diGeorge syndrome in particular.

Immune dysregulation

Other research projects encompass cohorts of patients with CVID, activated PI3-kinase syndrome (APDS) and other immunodeficiencies characterized mainly by immune system dysregulation. These projects are more clinically focused and map the mechanisms of immune dysregulation. The primary end-goal is, as always, finding new and more targetted modern therapies of these syndromes. In 2016, the PID working group with the Department of Immunology took part in a first-phase clinical trial organized by Novartis, where one of our patients was the first in Europe to receive a specific PI3K inhibitor, suppressing the effects of PI3-kinase and thus offsetting and treating his gain-of-function mutation. The study will continue with an extension and later on phase-two, planned for the coming years.


The PID working group with the Department of Immunology collaborates with other groups both in the Czech Republic and internationally. The most important partners are the Department of Pediatric Hematology and Oncology and its CLIP laboratory as a part of the University Hospital in Motol, the Department of Clinical Immunology and Allergology as a part of the Saint Anne Hospital and Masaryk University in Brno and the Primary Immunodeficiency Working Party with ČSAKI (Czech Society of Allergology and Clinical Immunology) which involves centers all around the Czech Republic. On the international scale, this working group is a part of ESID, the European Society for Immunodeficiencies (more on our involvement with ESID can be found here).

Principal investigators

Created: 23. 5. 2019 / Modified: 11. 1. 2021 / Responsible person: RNDr. Jan Lašťovička, CSc.