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Publication

UNRAVELING MOLECULAR DETERMINANTS IN ADULT-PRESENTING INBORN ERRORS OF IMMUNITY

Book - Dissertation

Primary immunodeficiency (PID) refers to a heterogeneous group of disorders characterized by poor or absent function in one or more components of the immune system. The prevalence of PID is estimated to be between 1 in 25,000 to 1 in 1200 live births. PID is typically regarded as a pediatric disorder. Nevertheless many PID patients are adults often presenting with clinical symptoms beyond childhood. The disease mechanism in the majority of PID patients remains unknown, despite the fact they are regarded as congenital disorders, leading to empirical treatment with poor standardization and varying success. Advances in genome analysis have recently provided new insights in the genetic architecture of PID with more than 300 causative genes involved in PID being identified, reclassifying them as inborn errors of immunity (IEI). However, many IEI patients remain uncharacterized and unanticipated phenotypes associated with novel mutations in known IEI-related genes as well as disease-causing mutations in novel IEI-related genes continue to emerge. The current application aims to identify and elucidate molecular determinants in adult-onset IEI patients.
Publication year:2022
Accessibility:Closed