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.
Keywords: inborn errors of immunity; new monogenic diseases of immunity; primary immunodeficiency disorders.
【저자키워드】 inborn errors of immunity, new monogenic diseases of immunity, primary immunodeficiency disorders., 【초록키워드】 Mutation, severe COVID-19, Immunity, immune regulation, immunodeficiency, Primary Immunodeficiency, immune, Interpretation, T-cell receptor, DNA sequencing, TCR, disease, Signaling, host defense, referred to, Primary immunodeficiency disorders, deficiency, disorders, Inborn errors, genomic data, immunodeficiency disorders, disorder, Defense, Host, SASH3, described, involved, reported, Inborn, PID, 【제목키워드】 congenital,