Fig. 1.

Clinical and genetic evaluation of a patient with IFNAR1 deficiency associated with both critical COVID-19 pneumonia and MIS-C. Panel A shows the pedigree of the index patient; Panel B shows computed tomography (CT) scan revealing right sinus affected by mucormycosis at age 2; Panel C shows chest CT scan day 8 after the onset of the disease, with ground-glass opacification and dense consolidation on air bronchograms; Panel D shows chronological clinical complications in a patient; Panel E depicts a schematic illustration of the localization of the large deletion identified in this report and mutations identified in previously reported cases with IFNAR1 deficiency. IEI inborn errors of immunity. Panels F–G represent the confirmation of large deletion in the index patient by integrative genomics viewer of the whole-exome sequencing, PCR, and Sanger sequencing