Background

There is uncertainty about the impact of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in individuals with rare inborn errors of immunity (IEI), a population at risk of developing severe coronavirus disease 2019. This is relevant not only for these patients but also for the general population, because studies of IEIs can unveil key requirements for host defense.

Objective

We sought to describe the presentation, manifestations, and outcome of SARS-CoV-2 infection in IEI to inform physicians and enhance understanding of host defense against SARS-CoV-2.

Methods

An invitation to participate in a retrospective study was distributed globally to scientific, medical, and patient societies involved in the care and advocacy for patients with IEI.

Results

We gathered information on 94 patients with IEI with SARS-CoV-2 infection. Their median age was 25 to 34 years. Fifty-three patients (56%) suffered from primary antibody deficiency, 9 (9.6%) had immune dysregulation syndrome, 6 (6.4%) a phagocyte defect, 7 (7.4%) an autoinflammatory disorder, 14 (15%) a combined immunodeficiency, 3 (3%) an innate immune defect, and 2 (2%) bone marrow failure. Ten were asymptomatic, 25 were treated as outpatients, 28 required admission without intensive care or ventilation, 13 required noninvasive ventilation or oxygen administration, 18 were admitted to intensive care units, 12 required invasive ventilation, and 3 required extracorporeal membrane oxygenation. Nine patients (7 adults and 2 children) died.

Conclusions

This study demonstrates that (1) more than 30% of patients with IEI had mild coronavirus disease 2019 (COVID-19) and (2) risk factors predisposing to severe disease/mortality in the general population also seemed to affect patients with IEI, including more younger patients. Further studies will identify pathways that are associated with increased risk of severe disease and are nonredundant or redundant for protection against SARS-CoV-2.

中文翻译：

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先天性免疫缺陷患者的 2019 年冠状病毒病：一项国际研究

背景

严重急性呼吸系统综合症冠状病毒 2 (SARS-CoV-2) 感染对患有罕见先天性免疫缺陷 (IEI) 的个体的影响存在不确定性，该人群有患上 2019 年严重冠状病毒病的风险。这不仅适用于这些患者也适用于普通人群，因为对 IEI 的研究可以揭示宿主防御的关键要求。

客观的

我们试图描述 IEI 中 SARS-CoV-2 感染的表现、表现和结果，以告知医生并加深对宿主防御 SARS-CoV-2 的理解。

方法

参与回顾性研究的邀请已在全球分发给参与 IEI 患者护理和宣传的科学、医学和患者协会。

结果

我们收集了 94 名感染 SARS-CoV-2 的 IEI 患者的信息。他们的中位年龄为 25 至 34 岁。53 名患者（56%）患有一抗缺乏症，9 名（9.6%）患有免疫失调综合征，6 名（6.4%）患有吞噬细胞缺陷，7 名（7.4%）患有自身炎症性疾病，14 名（15%）患有联合免疫缺陷, 3 (3%) 先天性免疫缺陷, 2 (2%) 骨髓衰竭。10 人无症状，25 人门诊治疗，28 人无需重症监护或通气，13 人需要无创通气或吸氧，18 人入住重症监护病房，12 人需要有创通气，3 人需要体外膜肺氧合。9 名患者（7 名成人和 2 名儿童）死亡。

结论

这项研究表明，(1) 超过 30% 的 IEI 患者患有轻度的 2019 年冠状病毒病 (COVID-19) 和 (2) 在一般人群中易患严重疾病/死亡的风险因素似乎也影响 IEI 患者，包括更多年轻患者。进一步的研究将确定与严重疾病风险增加相关的途径，这些途径对于预防 SARS-CoV-2 而言是非冗余或冗余的。