Clinical and cellular phenotypes of TYK2-deficient patients
| Parameter | Patient | Mouse data | |||||||
| P1 | P2 | P3 | P4 | P5 | P6 | P7 | P8 | ||
| Sex | Male | Male | Female | Male | Male | Female | Female | Male | |
| Country | Japan | Turkey | Morocco | Morocco | Iran | Iran | Iran | Argentina | |
| Atopy/Dermatitis | yes | no | no | no | no | no | no | no | |
| High IgE levels | yes | no | no | no | no | no | no | no | |
| S. aureus infections | yes | no | no | no | no | no | no | no | |
| Viral infections | HSV, PI3, MC | VZV | no | yes? | no | yes | no | HSV | |
| Intracellular bacterial infections | BCG-osis, Salmonella | BCG-osis, Brucella | M. tuberculosis | yes? | BCG-osis | BCG-itis | M. tuberculosis | no | |
| Fungal infections | C. albicans | no | no | no | no | no | no | no | |
| Homozygous mutation | C70HfsX21 | L767X | T1106HfsX4 | T1106HfsX4 | E154X | E154X | S50HfsX1 | R638X | |
| BCG vaccination | yes | yes | yes | yes | yes | yes | yes | yes | |
| Response to IL-12 and IL-23 | impaired | impaired | impaired | impaired | impaired | impaired | impaired | impaired | impaired |
| Response to IFN-α | impaired | impaired | impaired | impaired | impaired | impaired | impaired | impaired | impaired |
| Response to IL-10 | impaired | impaired | impaired | impaired | impaired | impaired | impaired | impaired | normal |
| Response to IL-6 | impaired | normal | normal | normal | normal | normal | normal | normal | normal |
| Parameter | Patient | Mouse data | |||||||
| P1 | P2 | P3 | P4 | P5 | P6 | P7 | P8 | ||
| Sex | Male | Male | Female | Male | Male | Female | Female | Male | |
| Country | Japan | Turkey | Morocco | Morocco | Iran | Iran | Iran | Argentina | |
| Atopy/Dermatitis | yes | no | no | no | no | no | no | no | |
| High IgE levels | yes | no | no | no | no | no | no | no | |
| S. aureus infections | yes | no | no | no | no | no | no | no | |
| Viral infections | HSV, PI3, MC | VZV | no | yes? | no | yes | no | HSV | |
| Intracellular bacterial infections | BCG-osis, Salmonella | BCG-osis, Brucella | M. tuberculosis | yes? | BCG-osis | BCG-itis | M. tuberculosis | no | |
| Fungal infections | C. albicans | no | no | no | no | no | no | no | |
| Homozygous mutation | C70HfsX21 | L767X | T1106HfsX4 | T1106HfsX4 | E154X | E154X | S50HfsX1 | R638X | |
| BCG vaccination | yes | yes | yes | yes | yes | yes | yes | yes | |
| Response to IL-12 and IL-23 | impaired | impaired | impaired | impaired | impaired | impaired | impaired | impaired | impaired |
| Response to IFN-α | impaired | impaired | impaired | impaired | impaired | impaired | impaired | impaired | impaired |
| Response to IL-10 | impaired | impaired | impaired | impaired | impaired | impaired | impaired | impaired | normal |
| Response to IL-6 | impaired | normal | normal | normal | normal | normal | normal | normal | normal |