Table 1.
Genetic, demographic, and clinical features of IRF7-deficient patients
| Feature | P1 | P2 | P3 | P4 | P5 | P6 | P7 |
|---|---|---|---|---|---|---|---|
| IRF7 variants (NM_001572) | p.(Phe410Val); p.(Gln421Ter) | p.(Pro364AlafsX38); p.(Pro364AlafsX38) | p.(Asp117Asn); p.(Met371Val) | p.(Glu28Gln;Ala62Thr); p.(Glu28Gln;Ala62Thr) | p.(Ala280GlyfsX12); p.(Ala280GlyfsX12) | p.(Ala280GlyfsX12); p.(Ala280GlyfsX12) | p.(Trp91Ter); p.(Trp91Ter) |
| Age at onset | 2.5 yr | 49 yr | 50 yr | 29 yr | 38 yr | 31 yr | 6 mo |
| Ancestry (Residence) | France | Italy (Belgium) | Turkey | Iran | Sweden/Finland (Sweden) | Sweden/Finland (Sweden) | Belgium |
| Viral susceptibility | Influenza | SARS-CoV-2 | SARS-CoV-2 | SARS-CoV-2 | SARS-CoV-2 | Influenza; SARS-CoV-2; TBE virus | RSV; influenza; adenovirus |
| BMI (kg/m 2 ) | 30.0 | 27.3 | 29.4 | 23.4 | 22.0 | ||
| Risk factors | Obesity | None | None | None | |||
| Outcome | Alive and well at age 14 yr | Alive and well at age 50 yr | Alive and well at age 51 yr | Died from COVID-19 at age 29 yr | Alive and well at age 39 yr | Alive and well at age 32 yr | Alive and well at age 5 yr |
| Vaccinations | Influenza since 2014; COVID-19 since 2021 | Not applicable | Influenza since 2021; COVID-19 since 2021 | Influenza since 2021; COVID-19 since 2021 | Influenza since 2021; COVID-19 since 2021 | ||
| Reference | Ciancanelli et al., 2016 | Zhang et al., 2020 | Zhang et al., 2020 |