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- W2927761568 endingPage "820" @default.
- W2927761568 startingPage "806" @default.
- W2927761568 abstract "Purpose of review Primary immunodeficiency diseases (PIDs) are genetic disorders classically characterized by impaired host defense and an increased susceptibility to infections. It is now appreciated that these conditions broadly include variations in the genetic code that cause dysregulated immune function. This review highlights the newly defined PIDs in the 2017 International Union of Immunologic Societies (IUIS) report, current approaches to diagnosing PIDs, and the implications for the future management of PIDs. Recent findings With the advances in and increased commercial availability of genetic testing and the adoption of the TREC assay into the US Newborn Screening program, the number of identified PIDs has exponentially risen in the past few decades, reaching over 350 disorders. The IUIS Inborn Errors of Immunity committee acknowledged at least 50 new disorders between 2015 and 2017. Furthermore, given the greater recognition of disorders with primarily immune dysregulation, the committee proposed a more inclusive term of ‘inborn errors of immunity’ to encompass primary immunodeficiencies and immune dysregulation disorders. Summary This latest IUIS report underscores the rapid expansion in the PID field with technologic advancements in immunogenetics and clinical screening discovering new genetic diseases, and therefore, paving the way to novel therapeutics and precision medicine." @default.
- W2927761568 created "2019-04-11" @default.
- W2927761568 creator A5006543894 @default.
- W2927761568 creator A5050629820 @default.
- W2927761568 creator A5069051471 @default.
- W2927761568 date "2018-12-01" @default.
- W2927761568 modified "2023-10-01" @default.
- W2927761568 title "New primary immunodeficiency diseases" @default.
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