期刊
JOURNAL OF CLINICAL IMMUNOLOGY
卷 43, 期 6, 页码 1278-1288出版社
SPRINGER/PLENUM PUBLISHERS
DOI: 10.1007/s10875-023-01488-6
关键词
STAT2 deficiency; Innate immunity; Viral susceptibility; Interferons; IFN alpha; SARS-CoV-2
类别
Human inborn errors of immunity affecting the IFN-I induction pathway have been associated with severe viral infections, including hemophagocytic lymphohistiocytosis. This article reports a case of complete STAT2 deficiency in a child who developed HLH after vaccination and later MIS-C after SARS-CoV-2 infection. Functional studies revealed impaired IFN-I-induced response and defective IFN alpha expression, suggesting a complex mechanism for hyperinflammatory reactions in these patients.
Human inborn errors of immunity (IEI) affecting the type I interferon (IFN-I) induction pathway have been associated with predisposition to severe viral infections. Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening systemic hyperinflammatory syndrome that has been increasingly associated with inborn errors of IFN-I-mediated innate immunity. Here is reported a novel case of complete deficiency of STAT2 in a 3-year-old child that presented with typical features of HLH after mumps, measles, and rubella vaccination at the age of 12 months. Due to the life-threatening risk of viral infection, she received SARS-CoV-2 mRNA vaccination. Unfortunately, she developed multisystem inflammatory syndrome in children (MIS-C) after SARS-CoV-2 infection, 4 months after the last dose. Functional studies showed an impaired IFN-I-induced response and a defective IFN alpha expression at later stages of STAT2 pathway induction. These results suggest a possible more complex mechanism for hyperinflammatory reactions in this type of patients involving a possible defect in the IFN-I production. Understanding the cellular and molecular links between IFN-I-induced signaling and hyperinflammatory syndromes can be critical for the diagnosis and tailored management of these patients with predisposition to severe viral infection.
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