Table 3.
Information about reported TYK2-deficient patients.
| First author | Sex | Country | Age |
Atopy/ dermatitis |
High IgE levels | S. aureus infection | Viral infection | Intracellular bacterial infection | Fungal infection | BCG vaccination | Gene mutation | Protein mutation | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P1 | Minegishi | M | Japan | 22 | yes | yes | yes | HSV, PI3, MC | BCG Salmonella | C. albicans | yes | Exon 4 c.550_553delGCTT | C70HfsX21 |
| P2 | Kreins | M | Turkey | 17 | no | no | no | VZV | BCG, Brucella | no | yes | Exon 16 c.2303_2311del | L767X |
| P3 | Kreins | F | Morocco | 14 | no | no | no | no | M. tuberculosis | no | yes | Exon23 c.3318_3319insC | T1106HfsX4 |
| P4 | Kreins | M | Morocco | 14 | no | no | no | unknown | unknown | no | yes | Exon23 c.3318_3319insC | T1106HfsX4 |
| P5 | Kreins | M | Iran | 5 | no | no | no | no | BCG | no | yes | Exon5 c.462G>T | E154X |
| P6 | Kreins | F | Iran | 2 | no | no | no | yes | BCG | no | yes | Exon5 c.462G>T | E154X |
| P7 | Kreins | F | Iran | 9 | no | no | no | no | M. tuberculosis | no | yes | Exon3 c.149delC | S50HfsX1 |
| P8 | Kreins | M | Argentina | 11 | no | no | no | HSV | No | no | yes | Exon13 c.1912 C>T | R638X |
| P9 | Fuchs | M | Kurdish | 5 | yes | yes | yes | no | No | no | no | Exon7 c.647delC | P216RfsX14 |
| P10 | Nemoto | M | unknown | 15 | no | no | no | EBV-associated B-cell lymphoma, varicella | No | no | yes | compound heterozygous mutations c.209_212 del GCTT /c.691 C > T | C70SfsX21/R231W |
| P11 | Nemoto | F | unknown | 14 | no | no | no | EBV-associated B-cell lymphoma, Varicella | Unknown | no | yes | compound heterozygous mutations c.209_212 del GCTT /c.691 C > T | C70SfsX21/R231W |
| P12 | Peilin | M | China | 2 | no | no | no | Influenza virus | MP, BCG | no | yes | Exon17 c.2395G>A | G799R |
| Total | M:F = 8:4 | 10.8 | 2/12 (0.17) | 2/12 (0.17) | 2/12 (0.17) | 7/12 (0.58) | 7/12 (0.58) | 1/12 (0.08) | 11/12 (0.92) |
BCG, Bacillus Calmette – Guerin; MP, mycoplasma pneumonia.