New primary immunodeficiency diseases: context and future

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 disord...

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