hidden - assigned and confirmed by the Study Dept.
Date of registration:
28.10.2016
Date of assignment:
28.10.2016
Confirmed by Study dept. on:
28.10.2016
Date and time of defence:
13.09.2022 11:00
Date of electronic submission:
26.06.2022
Date of submission of printed version:
29.06.2022
Date of proceeded defence:
13.09.2022
Opponents:
RNDr. Dominik Filipp, CSc.
prof. MUDr. Jaroslav Čermák, CSc.
References
Casanova, Jean-Laurent, et al. 2014. Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies. The Journal of Experimental Medicine. 211(11), 2137–2149. doi: 10.1084/jem.20140520
Fischer, Alain, et al., 2017. Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies. The Journal of Allergy and Clinical Immunology. 140(5), 1388-1393.e8. doi: 10.1016/j.jaci.2016.12.978
Stray-Pedersen, Asbjørg, et al., 2017. Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. Journal of Allergy and Clinical Immunology. 139(1), 232–245. doi: 10.1016/j.jaci.2016.05.042
Preliminary scope of work
Cílem práce je zavedení vyšetření pomocí celoexomového sekvenování (WES) u dětských pacientů s podezřením na vrozenou poruchu imunity (IEI) nebo selhání kostní dřeně. U nově identifikovaných variant budou navrženy validační experimenty za účelem potvrzení kauzality identifikovaných mutací v patogenezi onemocnění. Na základě identifikovaných kauzálních genetických variant bude navržena léčba těchto pacientů a možnosti sledování klinické odpovědi.
Preliminary scope of work in English
The aim of this work is to introduce whole exome sequencing (WES) in pediatric patients with suspected inborn error of immunity (IEI) or hematopoiesis. Validation experiments will be designed for newly identified variants in order to confirm the causality of the identified variants in the pathogenesis of the disease. Based on the identified causal variants, treatment of these patients and options for monitoring of the clinical response will be proposed.
- assigned and confirmed by the Study Dept.