Unlocking life-threatening COVID-19 through two types of inborn errors of type I IFNs.
Unlocking life-threatening COVID-19 through two types of inborn errors of type I IFNs.
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DOI：
10.1172/jci166283
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发表时间：
2023-02-01
影响因子：
15.9
通讯作者：
Anderson, Mark S.
中科院分区：
文献类型：
--
作者：
Casanova, Jean-Laurent;Anderson, Mark S.
自2003年以来，已经发现了罕见的人类I型IFN免疫先天性缺陷，每种缺陷都是一些严重病毒性疾病的基础。由于自身免疫调节因子（AIRE）驱动的T细胞耐受性的罕见先天性错误，中和I型IFN的自身抗体于2006年被发现，但最初与任何病毒性疾病无关。这两条临床研究线于2020年汇合，发现I型IFN免疫的遗传性和/或自身免疫缺陷约占未接种疫苗个体的严重COVID-19肺炎病例的15%-20%。因此，SARS-CoV-2感染开始时I型IFN免疫力不足可能是危及生命的COVID-19的一般决定因素。这些发现说明了罕见人类遗传疾病研究对基础生物学和公共卫生的不可预测但相当大的贡献。
Since 2003, rare inborn errors of human type I IFN immunity have been discovered, each underlying a few severe viral illnesses. Autoantibodies neutralizing type I IFNs due to rare inborn errors of autoimmune regulator (AIRE)–driven T cell tolerance were discovered in 2006, but not initially linked to any viral disease. These two lines of clinical investigation converged in 2020, with the discovery that inherited and/or autoimmune deficiencies of type I IFN immunity accounted for approximately 15%–20% of cases of critical COVID-19 pneumonia in unvaccinated individuals. Thus, insufficient type I IFN immunity at the onset of SARS-CoV-2 infection may be a general determinant of life-threatening COVID-19. These findings illustrate the unpredictable, but considerable, contribution of the study of rare human genetic diseases to basic biology and public health.