Patients assayed for metabolic dysregulation
| Patient diagnosis . | Patient age (y) . | Patient sex (M/F) . | Gene affected . | Gain/loss of function . |
|---|---|---|---|---|
| STAT1 GOF | 13 | F | STAT1 | GOF |
| STAT1 GOF | 34 | M | STAT1 | GOF |
| Leigh syndrome | 5 | F | MT-ND1 | LOF |
| STAT1 GOF (± ruxolitinib) | 34 | M | STAT1 | GOF |
| Leigh syndrome | 10 | M | MT-ND1 | LOF |
| CGD | 57 | F | p47phox | LOF |
| CGD | 24 | M | gp91 | LOF |
| CGD | 38 | M | gp91 | LOF |
| CGD | 14 | M | gp91 | LOF |
| Patient diagnosis . | Patient age (y) . | Patient sex (M/F) . | Gene affected . | Gain/loss of function . |
|---|---|---|---|---|
| STAT1 GOF | 13 | F | STAT1 | GOF |
| STAT1 GOF | 34 | M | STAT1 | GOF |
| Leigh syndrome | 5 | F | MT-ND1 | LOF |
| STAT1 GOF (± ruxolitinib) | 34 | M | STAT1 | GOF |
| Leigh syndrome | 10 | M | MT-ND1 | LOF |
| CGD | 57 | F | p47phox | LOF |
| CGD | 24 | M | gp91 | LOF |
| CGD | 38 | M | gp91 | LOF |
| CGD | 14 | M | gp91 | LOF |
Patients’ clinical diagnosis, age, sex, affected gene, and functional consequence of their genetic mutation are listed as they appear in the corresponding figures.