IFNAR1 deleterious variants in patients with life-threatening viral diseases
| Category . | Patient . | Mutation . | Origin . | Age at presentation and gender . | Disease . | Outcome . | Reference . |
|---|---|---|---|---|---|---|---|
| Missense | P1 | W73C/W73C | Turkey | 38 years (M) | Critical COVID-19 pneumonia | Survived | Zhang et al. (2020) |
| P2 | C79R/+ | Mexico | 4 years (M) | Mild COVID-19 | Survived | ||
| P3 | C79Y/+ | Ivory coast | 63 years (M) | Critical COVID-19 pneumonia | Deceased | ||
| P4 | M155I/+ | Lebanon | 84 years (M) | Critical COVID-19 pneumonia | Deceased | ||
| P5 | Y215C/Y215C | Spain | 2 years (M) | HSE | Survived | Armangué et al. (2023) | |
| P6 | A264T/+ | Turkey | 9 years (M) | Asymptomatic/mild COVID-19 and frequent respiratory viral infections, including influenza | Survived | ||
| P7 | S422R/S422R | Pakistan | 26 years (M) | Critical COVID-19 pneumonia | Deceased | Zhang et al. (2020) | |
| Inframe Indel | P8 | N44del/+ | Cambodia | 2 years (M) | EV71 encephalitis | Survived | |
| P9 | P335del/P335del | Turkey | 17 years (M) | Severe COVID-19 pneumonia | Survived | ||
| P10 | P335del/+ | Eastern Asia | 30 years (F) | Asymptomatic COVID-19 | Survived | ||
| P11 | P335del/+ | China | 23 years (F) | Critical COVID-19 pneumonia | Survived | Zhang et al. (2020) | |
| P12 | P335del/+ | China | 57 years (F) | Critical COVID-19 pneumonia | Deceased | ||
| P13 | P335del/+ | Thailand | 62 years (F) | Critical COVID-19 pneumonia | Survived | ||
| P14 | P335del/+ | Hong Kong | 32 years (M) | Mild SARS-CoV-2 | Survived | ||
| P15 | P335del/+ | Cambodia | 5 years (M) | JEV encephalitis | Deceased | ||
| P16 | P335del/+ | Cambodia | 3 years (M) | JEV encephalitis | Survived | ||
| pLOF | P17 | N29fs/N29fs | India | 2.5 years (F) | Adverse reactions to MMR/V vaccine | Survived | |
| P18 | V225fs/V225fs | Iran | 1 year (M) | Adverse reactions to MMR vaccine | Survived | Hernandez et al. (2019) | |
| P19 | V225fs/W261X | Brazil | 12 years (F) | Adverse reactions to YF vaccine | Survived | ||
| P20 | E386X/E386X | West Polynesia | 1 year (F) | Adverse reactions to MMR vaccine | Deceased | Bastard et al. (2022a) | |
| P21 | 1 year (M) | Deceased | |||||
| P22 | 15 mo (F) | Deceased | |||||
| P23 | 13 mo (M) | Deceased | |||||
| P24 | 16 mo (M) | Survived | |||||
| P25 | 14 mo (M) | Adverse reactions to MMR vaccine and critical RSV pneumonia | Survived | ||||
| P26 | 10 mo (F) | Hemophilus influenza type B (Hib) bacteremia and meningitis at the age of 10 mo, critical RSV pneumonia at the age of 12 mo, and ARDS at the age of 7 years | Survived | ||||
| P27 | T389fs/T389fs | Israel | 1 year (M) | Adverse reactions to MMR/V vaccine | Survived | ||
| P28 | Y481insIHCGICFPV*/Y481insIHCGICFPV* | Palestine | 13 mo (F) | HSE | Deceased | Bastard et al. (2021b) | |
| P29 | 6 mo (M) | Meningitis at the age of 6 and 10 mo, parotitis and deafness age of 14 years after Mumps infection? | Survived |
| Category . | Patient . | Mutation . | Origin . | Age at presentation and gender . | Disease . | Outcome . | Reference . |
|---|---|---|---|---|---|---|---|
| Missense | P1 | W73C/W73C | Turkey | 38 years (M) | Critical COVID-19 pneumonia | Survived | Zhang et al. (2020) |
| P2 | C79R/+ | Mexico | 4 years (M) | Mild COVID-19 | Survived | ||
| P3 | C79Y/+ | Ivory coast | 63 years (M) | Critical COVID-19 pneumonia | Deceased | ||
| P4 | M155I/+ | Lebanon | 84 years (M) | Critical COVID-19 pneumonia | Deceased | ||
| P5 | Y215C/Y215C | Spain | 2 years (M) | HSE | Survived | Armangué et al. (2023) | |
| P6 | A264T/+ | Turkey | 9 years (M) | Asymptomatic/mild COVID-19 and frequent respiratory viral infections, including influenza | Survived | ||
| P7 | S422R/S422R | Pakistan | 26 years (M) | Critical COVID-19 pneumonia | Deceased | Zhang et al. (2020) | |
| Inframe Indel | P8 | N44del/+ | Cambodia | 2 years (M) | EV71 encephalitis | Survived | |
| P9 | P335del/P335del | Turkey | 17 years (M) | Severe COVID-19 pneumonia | Survived | ||
| P10 | P335del/+ | Eastern Asia | 30 years (F) | Asymptomatic COVID-19 | Survived | ||
| P11 | P335del/+ | China | 23 years (F) | Critical COVID-19 pneumonia | Survived | Zhang et al. (2020) | |
| P12 | P335del/+ | China | 57 years (F) | Critical COVID-19 pneumonia | Deceased | ||
| P13 | P335del/+ | Thailand | 62 years (F) | Critical COVID-19 pneumonia | Survived | ||
| P14 | P335del/+ | Hong Kong | 32 years (M) | Mild SARS-CoV-2 | Survived | ||
| P15 | P335del/+ | Cambodia | 5 years (M) | JEV encephalitis | Deceased | ||
| P16 | P335del/+ | Cambodia | 3 years (M) | JEV encephalitis | Survived | ||
| pLOF | P17 | N29fs/N29fs | India | 2.5 years (F) | Adverse reactions to MMR/V vaccine | Survived | |
| P18 | V225fs/V225fs | Iran | 1 year (M) | Adverse reactions to MMR vaccine | Survived | Hernandez et al. (2019) | |
| P19 | V225fs/W261X | Brazil | 12 years (F) | Adverse reactions to YF vaccine | Survived | ||
| P20 | E386X/E386X | West Polynesia | 1 year (F) | Adverse reactions to MMR vaccine | Deceased | Bastard et al. (2022a) | |
| P21 | 1 year (M) | Deceased | |||||
| P22 | 15 mo (F) | Deceased | |||||
| P23 | 13 mo (M) | Deceased | |||||
| P24 | 16 mo (M) | Survived | |||||
| P25 | 14 mo (M) | Adverse reactions to MMR vaccine and critical RSV pneumonia | Survived | ||||
| P26 | 10 mo (F) | Hemophilus influenza type B (Hib) bacteremia and meningitis at the age of 10 mo, critical RSV pneumonia at the age of 12 mo, and ARDS at the age of 7 years | Survived | ||||
| P27 | T389fs/T389fs | Israel | 1 year (M) | Adverse reactions to MMR/V vaccine | Survived | ||
| P28 | Y481insIHCGICFPV*/Y481insIHCGICFPV* | Palestine | 13 mo (F) | HSE | Deceased | Bastard et al. (2021b) | |
| P29 | 6 mo (M) | Meningitis at the age of 6 and 10 mo, parotitis and deafness age of 14 years after Mumps infection? | Survived |