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.

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

Castagnoli R.;
2022-01-01

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.
2022
Inglese
Internazionale
STAMPA
33
27
61
64
4
inborn errors of immunity; new monogenic diseases of immunity; primary immunodeficiency disorders; High-Throughput Nucleotide Sequencing; Humans; Mutation; SARS-CoV-2; COVID-19; Primary Immunodeficiency Diseases
3
info:eu-repo/semantics/article
262
Castagnoli, R.; Delmonte, O. M.; Notarangelo, L. D.
1 Contributo su Rivista::1.1 Articolo in rivista
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11571/1453392
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