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Sökning: WFRF:(Casanova JL) > Smith CIE

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  • Campbell, TM, et al. (författare)
  • Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency
  • 2022
  • Ingår i: The Journal of experimental medicine. - : Rockefeller University Press. - 1540-9538 .- 0022-1007. ; 219:7
  • Tidskriftsartikel (refereegranskat)abstract
    • Autosomal recessive IRF7 deficiency was previously reported in three patients with single critical influenza or COVID-19 pneumonia episodes. The patients’ fibroblasts and plasmacytoid dendritic cells produced no detectable type I and III IFNs, except IFN-β. Having discovered four new patients, we describe the genetic, immunological, and clinical features of seven IRF7-deficient patients from six families and five ancestries. Five were homozygous and two were compound heterozygous for IRF7 variants. Patients typically had one episode of pulmonary viral disease. Age at onset was surprisingly broad, from 6 mo to 50 yr (mean age 29 yr). The respiratory viruses implicated included SARS-CoV-2, influenza virus, respiratory syncytial virus, and adenovirus. Serological analyses indicated previous infections with many common viruses. Cellular analyses revealed strong antiviral immunity and expanded populations of influenza- and SARS-CoV-2–specific memory CD4+ and CD8+ T cells. IRF7-deficient individuals are prone to viral infections of the respiratory tract but are otherwise healthy, potentially due to residual IFN-β and compensatory adaptive immunity.
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  • Fieschi, C, et al. (författare)
  • High levels of interferon gamma in the plasma of children with complete interferon gamma receptor deficiency
  • 2001
  • Ingår i: Pediatrics. - : American Academy of Pediatrics (AAP). - 1098-4275 .- 0031-4005. ; 107:4, s. art. no.-e48
  • Tidskriftsartikel (refereegranskat)abstract
    • We have found that children with complete interferon gamma (IFNγ) receptor deficiency, unlike patients with other genetic defects predisposing them to mycobacterial diseases, have very high levels of IFNγ in their plasma. This unexpected observation provides a simple and accurate diagnostic method for complete IFNγ receptor deficiency in children with clinical disease caused by bacille Calmette-Guérin vaccines or environmental nontuberculous mycobacteria.
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