Division of Intramural Research, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Pediatric Clinic, Fondazione IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy.
Pediatr Allergy Immunol. 2022 Jan;33 Suppl 27(Suppl 27):61-64. doi: 10.1111/pai.13632.
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.
先天性免疫缺陷（IEI），也称为原发性免疫缺陷（PID），是一类疾病，主要由参与宿主免疫防御和免疫调节的基因发生突变引起。随着高通量 DNA 测序的普及和基因组数据解读能力的提高，过去十年中与 IEI 相关的新鉴定基因数量呈指数级增长。在这里，我们重点关注与严重 COVID-19 和 SASH3 缺陷相关的新描述的 IEI，以及最近报道的 TCR 信号受损的 IEI。
