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Congenital and acquired defects of immunity: An ever-evolving story.

Riccardo CastagnoliOttavia Maria DelmonteLuigi Daniele Notarangelo
Published in: Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology (2022)
Inborn errors of immunity (IEI), also referred to as primary immunodeficiencies (PID), are disorders that, for the most part, result from mutations in genes involved in immune host defense and immune regulation. With the increased availability of high-throughput DNA sequencing and improved genomic data interpretation, the number of newly identified genes associated with IEI has exponentially increased over the last decade. Here, we focus on the newly described IEI associated with severe COVID-19 and SASH3 deficiency, the most recently reported IEI with impaired T-cell receptor (TCR) signaling.
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