Patient | Gene | Genetic variation | Nucleotide variation | PIDs | Gene testing |
---|---|---|---|---|---|
3 | Not Found | Not Found | Not Found | Not Determined | Whole exome gene sequencing |
4 | CD40LG | Hemizygote | c.424_436del | HIGM | PID genes panel |
7 | Not done | – | – | HIESa | – |
9 | COPA | Heterozygous | c.2437G > T | Not Determined | Whole exome gene sequencing |
10 | CD40LG | Microdeletion | > 132 kb | HIGM | PID genes panel |
16 | CD40LG | Microdeletion | c.1978 + 1G > A | HIGM | PID genes panel |
17 | CD40LG | Hemizygote | c.598A > T | HIGM | PID genes panel |
18 | IL2RG | Hemizygote | c.185G > A | SCID | PID genes panel |
19 | STAT3 | Heterozygous | c.1679_1681del | Not Determinedb | Whole exome gene sequencing |
21 | STAT3 | Heterozygous | c.A1593T | HIES | PID genes panel |