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Case Reports
. 2022 Jan;42(1):19-24.
doi: 10.1007/s10875-021-01166-5. Epub 2021 Oct 28.

A Case of Autosomal Recessive Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency with Severe COVID-19

Shaghayegh Khanmohammadi  1   2 , Nima Rezaei  1   2   3 , Mehdi Khazaei  4 , Afshin Shirkani  5
Affiliations
Case Reports

A Case of Autosomal Recessive Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency with Severe COVID-19

Shaghayegh Khanmohammadi et al. J Clin Immunol. 2022 Jan.

Abstract

Background: Interferons (IFNs) play a crucial role in antiviral immunity. Genetic defects in interferon receptors, IFNs, and auto-antibodies against IFNs can lead to the development of life-threatening forms of infectious diseases like a severe form of COVID-19.

Case presentation: A 13-year-old boy with a previously reported homozygous loss-of-function mutation in interferon alpha/beta receptor subunit 1 (IFNAR1) (c.674-2A > G) was diagnosed with severe COVID-19. He had cold symptoms and a high-grade fever at the time of admission. He was admitted to the pediatric intensive care unit after showing no response to favipiravir and being hypoxemic. High-resolution computed tomography (HRCT) scanning revealed lung involvement of 70% with extensive areas of consolidation in both lungs. Antibiotics, interferon gamma (IFN-γ), remdesivir, methylprednisolone pulse, and other medications were started in the patient. However, remdesivir and methylprednisolone pulse were discontinued because of their adverse side effects in the patient. His general condition improved, and a few days later was discharged from the hospital.

Conclusion: We reported a patient with severe COVID-19 who had a mutation in IFNAR1. Our finding suggests that patients with IFNAR1 deficiency are prone to severe forms of COVID-19. Besides, IFN-γ therapy may be a potential drug to treat patients with defects in IFN-α/β signaling pathways which needs further investigations.

Keywords: COVID-19; Coronavirus; IFNAR1 deficiency; IFNs; Interferon-gamma; SARS-CoV-2.

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
Lung HRCTs on admission day (left) and a few days later during hospitalization (right); A Axial HRCT, aortic arch level. Extensive consolidation in upper lobes is seen; B Axial HRCT, subcarinal level. Patchy confluent consolidation is turning to ground glass attenuation on the second study; C Axial HRCT, basilar area. There are a few nodular consolidations in the first study (arrows). Patchy confluent consolidations and ground glass opacities are noted on the second study
See this image and copyright information in PMC

References

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