Human genetic and immunological determinants of critical COVID-19 pneumonia

被引：270

作者：

Zhang, Qian ^{[1
,2
,3
]}

Bastard, Paul ^{[1
,2
,3
,4
]}

Cobat, Aurelie ^{[1
,2
,3
]}

Casanova, Jean-Laurent ^{[1
,2
,3
,4
,5
]}

机构：

[1] Rockefeller Univ, St Giles Lab Human Genet Infect Dis, Rockefeller Branch, 1230 York Ave, New York, NY 10021 USA

[2] Necker Hosp Sick Children, Lab Human Genet Infect Dis, Necker Branch, INSERM,U1163, Paris, France

[3] Univ Paris, Imagine Inst, Paris, France

[4] Necker Hosp Sick Children, Dept Pediat, Paris, France

[5] Howard Hughes Med Inst, Paris, France

来源：

NATURE | 2022年 / 603卷 / 7902期

基金：

美国国家卫生研究院; 欧盟地平线“2020”;

关键词：

PLASMACYTOID DENDRITIC CELLS; CHRONIC MUCOCUTANEOUS CANDIDIASIS; MYASTHENIA-GRAVIS PATIENTS; SARS-COV-2; INFECTION; PROTECTIVE IMMUNITY; DISTINCT FUNCTIONS; INBORN-ERRORS; HIGH BURDEN; INTERFERON; AUTOANTIBODIES;

D O I：

10.1038/s41586-022-04447-0

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

SARS-CoV-2 infection is benign in most individuals but, in around 10% of cases, it triggers hypoxaemic COVID-19 pneumonia, which leads to critical illness in around 3% of cases. The ensuing risk of death (approximately 1% across age and gender) doubles every five years from childhood onwards and is around 1.5 times greater in men than in women. Here we review the molecular and cellular determinants of critical COVID-19 pneumonia. Inborn errors of type I interferons (IFNs), including autosomal TLR3 and X-chromosome-linked TLR7 deficiencies, are found in around 1-5% of patients with critical pneumonia under 60 years old, and a lower proportion in older patients. Pre-existing auto-antibodies neutralizing IFN alpha, IFN beta and/or IFN omega, which are more common in men than in women, are found in approximately 15-20% of patients with critical pneumonia over 70 years old, and a lower proportion in younger patients. Thus, at least 15% of cases of critical COVID-19 pneumonia can be explained. The TLR3- and TLR7-dependent production of type I IFNs by respiratory epithelial cells and plasmacytoid dendritic cells, respectively, is essential for host defence against SARS-CoV-2. In ways that can depend on age and sex, insufficient type I IFN immunity in the respiratory tract during the first few days of infection may account for the spread of the virus, leading to pulmonary and systemic inflammation.

引用

页码：587 / 598

页数：12

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