Among children, severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections are typically mild. Here, we describe the case of a 3.5-year-old girl with an unusually severe presentation of coronavirus disease (COVID-19). The child had an autoinflammatory disorder of unknown etiology, which had been treated using prednisolone and methotrexate, and her parents were half cousins of Turkish descent. After 5 days of nonspecific viral infection symptoms, tonic-clonic seizures occurred followed by acute cardiac insufficiency, multi-organ insufficiency, and ultimate death. Trio exome sequencing identified a homozygous splice-variant in the gene TBK1 , and a homozygous missense variant in the gene TNFRSF13B . Heterozygous deleterious variants in the TBK1 gene have been associated with severe COVID-19, and the variant in the TNFRSF13B gene has been associated with common variable immunodeficiency (CVID). We suggest that the identified variants, the autoinflammatory disorder and its treatment, or a combination of these factors probably predisposed to lethal COVID-19 in the present case.
【저자키워드】 viral infection, Infection, Genetic testing, Autoinflammatory syndrome, 【초록키워드】 COVID-19, Treatment, coronavirus disease, SARS-CoV-2, coronavirus, severe COVID-19, children, Sequencing, variant, immunodeficiency, Symptoms, variants, death, Mild, methotrexate, etiology, CVID, Combination, Seizure, Deleterious, Prednisolone, acute respiratory syndrome, Factor, Exome, TBK1, parent, disorder, homozygous, occurred, treated, cardiac insufficiency, homozygous missense variant, nonspecific, TNFRSF13B, 【제목키워드】 COVID-19, Mutation, autoinflammatory disease, TBK1, TNFRSF13B,