Table 1.
Prevalence of CSF3R acquired mutations in studied groups using cDNA deep sequencing.
| Study groups | Number of patients, cDNA | Patients with acquired CSF3R mutations, cDNA |
|---|---|---|
| CN: | 68 | 32 (47.1%) |
| ELANE-CN | 38 | 20 (52.6%) |
| HAX1-CN | 20 | 9 (45%) |
| G6PC3-CN | 3 | 1 (33.3%) |
| WASP-CN | 1 | 1 (100%) |
| JAGN1-CN | 4 | 1 (25 %) |
| CSF3R-CN | 2 | 0 |
| CN, genetically unclassified | 28 | 16 (57.1%) |
| CyN | 12 | 2 (16.7%) |
| Shwachman-Diamond syndrome (SDS) | 13 | 0 |
| CN-MDS/AML | 5 | 4 (80%) |
| Idiopathic neutropenia | 15 | 0 |
| Autoimmune neutropenia | 2 | 0 |
| Others* | 9 | 0 |
| Total number of patients | 152 | 54 (35.5%) |
*
Cohen syndrome, WIHM syndrome, GSD-1b, Pearson syndrome, Barth syndrome, Hermansky-Pudlak syndrome, Diamond-Blackfan syndrome.