Genetic features of patients with STAT1 mutation and chronic mucocutaneous candidiasis diagnosed in Eastern and Central Europe
| Origin | Family ID | Patient ID (age, year) | Mutation (c.DNA) | Exon | Amino acid change | Affected domain | Reference |
|---|---|---|---|---|---|---|---|
| CZ | A | P1 (9*) | c.537C>A† | 7 | N179K | CCD | This report |
| CZ | B | P2 (39) | c.800C>T | 10 | A267V | CCD | This report |
| CZ | B | P3 (12) | c.800C>T | 10 | A267V | CCD | This report |
| HU | C | P4 (48) | c.820C>T | 10 | R274W | CCD | 11 |
| HU | C | P5 (17) | c.820C>T | 10 | R274W | CCD | 11 |
| RU | D | P6 (17) | c.821G>A | 10 | R274Q | CCD | This report |
| RU | E | P7 (9) | c.854A>G† | 10 | Q285R | CCD | This report |
| UA | F | P8 (13) | c.1154C>T | 14 | T385M | DBD | This report |
| UA | G | P9 (22) | c.494A>G | 7 | D165G | CCD | 9 |
*Died at the age indicated.
†Novel mutation detected.
CCD, coiled-coil domain; CZ, Czech Republic; DBD, DNA-binding domain; HU, Hungary; RU, Russia; UA, Ukraine.