| Literature DB >> 35080321 |
Riccardo Castagnoli1,2,3,4, Ottavia M Delmonte1, Luigi D Notarangelo1.
Abstract
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.Entities:
Keywords: inborn errors of immunity; new monogenic diseases of immunity; primary immunodeficiency disorders
Mesh:
Year: 2022 PMID: 35080321 PMCID: PMC9284288 DOI: 10.1111/pai.13632
Source DB: PubMed Journal: Pediatr Allergy Immunol ISSN: 0905-6157 Impact factor: 5.464