Clinical and genetic findings
| Patient no. . | Absolute neutrophil count at diagnosis/at sampling after G-CSF therapy . | ELA2* . | HAX1* . | Bacterial infections . |
|---|---|---|---|---|
| 1; SCN recessive | 0.0/6.0 allo-BMT | WT | Q190X | No periodontal disease, skin abscess, paronychia |
| 2; SCN recessive | 0.1/5.7 | WT | Q190X | Chronic gingivitis, skin abscess, otitis |
| 3; SCN sporadic | 0.05/12.8 | L92H | WT | Severe periodontitis, skin abscess, tonsillitis |
| 7; SCN sporadic | 0.2/11.3 | WT | WT | No periodontal disease, skin abscess |
| 15; SCN dominant | 0.2/NA | C26S | NA | Chronic gingivitis, septicemia, oitis |
| Patient no. . | Absolute neutrophil count at diagnosis/at sampling after G-CSF therapy . | ELA2* . | HAX1* . | Bacterial infections . |
|---|---|---|---|---|
| 1; SCN recessive | 0.0/6.0 allo-BMT | WT | Q190X | No periodontal disease, skin abscess, paronychia |
| 2; SCN recessive | 0.1/5.7 | WT | Q190X | Chronic gingivitis, skin abscess, otitis |
| 3; SCN sporadic | 0.05/12.8 | L92H | WT | Severe periodontitis, skin abscess, tonsillitis |
| 7; SCN sporadic | 0.2/11.3 | WT | WT | No periodontal disease, skin abscess |
| 15; SCN dominant | 0.2/NA | C26S | NA | Chronic gingivitis, septicemia, oitis |
Allo-BMT indicates allogeneic bone marrow transplantation; WT, wild type; and NA, not analyzed.
Amino acid numbers in ELA2 (Gene ID, 1991) correspond to the first residue after the signal peptide and the first residue in HAX1 (Gene ID/0456).