Finlands Akademi
Sökande / Kontakt person Grönholm, Juha
Organisation Helsingfors universitet
Projektets titel Identification of molecular mechanisms of novel primary immunodeficiency diseases
Beslutnr 321578
Beslutsdatum 06.05.2019
Finansierings period 01.09.2019 - 31.08.2023
Finansiering 269 827
WebFOCUS Report
Beskrivning av projektet
Primary immunodeficiency diseases (PIDDs) are a clinically heterogenous group of clinical entities manifesting with frequent or recurrent infections, sometimes together with autoimmune, autoinflammatory or lymphoproliferative conditions. PIDDs, which in many cases are monogenic, are caused by either de novo or hereditary mutations in the critical genes controlling the immune responses. This study aims to identify novel PIDDs causing gene variants and the molecular mechanisms of these diseases. New information about the genetics and pathogenesis of the PIDDs enables early diagnosing and protective interventions for the PIDD patients. These studies allow us to find targets for the development of curative gene therapies or other targeted treatment for these diseases. Moreover, the study of PIDD-causing genes reveals novel functions of these genes in the human immune system and potentially its novel regulators.