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Abolhassani, Hassan; Landegren, Nils; Bastard, Paul; Materna, Marie; Modaresi, Mohammadreza; Du, Likun; Aranda-Guillén, Maribel; Sardh, Fabian; Zuo, Fanglei; Zhang, Peng; Marcotte, Harold; Marr, Nico; Khan, Taushif; Ata, Manar; Al-Ali, Fatima; Pescarmona, Remi; Belot, Alexandre; Béziat, Vivien; Zhang, Qian; Casanova, Jean-Laurent; Kämpe, Olle; Zhang, Shen-Ying; Hammarström, Lennart; Pan-Hammarström, Qiang
Journal of clinical immunology, 04/2022, Volume: 42, Issue: 3Journal Article
Background Inborn errors of immunity (IEI) and autoantibodies to type I interferons (IFNs) underlie critical COVID-19 pneumonia in at least 15% of the patients, while the causes of multisystem inflammatory syndrome in children (MIS-C) remain elusive. Objectives To detect causal genetic variants in very rare cases with concomitant critical COVID-19 pneumonia and MIS-C. Methods Whole exome sequencing was performed, and the impact of candidate gene variants was investigated. Plasma levels of cytokines, specific antibodies against the virus, and autoantibodies against type I IFNs were also measured. Results We report a 3-year-old child who died on day 56 of SARS-CoV-2 infection with an unusual clinical presentation, combining both critical COVID-19 pneumonia and MIS-C. We identified a large, homozygous loss-of-function deletion in IFNAR1 , underlying autosomal recessive IFNAR1 deficiency. Conclusions Our findings confirm that impaired type I IFN immunity can underlie critical COVID-19 pneumonia, while suggesting that it can also unexpectedly underlie concomitant MIS-C. Our report further raises the possibility that inherited or acquired dysregulation of type I IFN immunity might contribute to MIS-C in other patients.
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