Table 1.
Demographic and clinical characteristics of participants from the NIH CC cohort.
| Healthy n=19 | CGD n=79 | Carriers n=8 | |
|---|---|---|---|
| Age, median (IQR), years | 29 (12) | 23 (20.5) | 38 (13.5) |
|
| |||
| Female, n (%) | 14 (73.7) | 17 (21.5) | 7 (87.5) |
|
| |||
| Race / Ethnicity, n (%) | |||
| White | 10 (52.5) | 55 (69.6) | 4 (50) |
| Black | 1 (5.3) | 10 (12.7) | 0 (0) |
| Latino(a) or Hispanic | 3 (15.8) | 6 (7.6) | 1(12.5) |
| Asian | 2 (10.5) | 3 (3.8) | 1 (12.5) |
| Mixed | 0 (0) | 2 (2.5) | 0 (0) |
| Unknown | 3 (15.8) | 3 (3.8) | 2 (25) |
|
| |||
| CGD genotype [affected protein], n (%) | |||
| CYBB0/− [gp91phox] | NA | 48 (60.8) | NA |
| CYBA−/− [p22phox] | NA | 5 (6.3) | NA |
| NCF1−/− [p47phox] | NA | 23 (29.1) | NA |
| NCF2−/− [p67phox] | NA | 2 (2.5) | NA |
| NCF4−/− [p40phox] | NA | 0 (0) | NA |
| CYBB+/− carriers | |||
| All carriers, n | NA | NA | 6 |
| Highly lyonized carriers, n | NA | NA | 2 |
| DUOX2+/− and NCF2+/− digenic heterozygous carriers | NA | NA | 2 |
|
| |||
| History of CGD-IBD, n (%) | 0 (0) | 54 (68.4) | 3 (37.5) |
|
| |||
| Active GI symptoms at visit a, n (%) | 0 (0) | 35 (44.3) | 4 (50) |
|
| |||
| On prophylactic antibiotics, n (%) | 2 (10.5) | 73 (92.4) | 3 (37.5)b |
| TMP-SMX | 2 (10.5) | 64 (81) | 3 (37.5) |
| Other prophylactic antibiotic | NA | 8 (10) | 0 (0) |
| Azole | NA | 71 (89.9) | 3 (37.5) |
|
| |||
| On non-prophylactic antibiotics, n (%) | |||
| Any | 0 (0) | 29 (36.7) | 2 (25) |
| Carbapenem | NA | 6 (7.6) | 0 (0) |
| Metronidazole | NA | 4 (5.1) | 0 (0) |
| Cephalosporin | NA | 4 (5.1) | 2 (25) |
| Quinolone | NA | 10 (12.6) | 0 (0) |
| Macrolide | NA | 3 (3.7) | 0 (0) |
| Tetracycline | NA | (5.1) | 0 (0) |
|
| |||
| On antifungal other than azole, n (%) | 0 (0) | 6 (7.6) | 0 (0) |
|
| |||
| On any antiviral, n (%) | 0 (0) | 1 (1.3) | 0 (0) |
|
| |||
| On steroids, n (%) | 0 (0) | 17 (21.5) | 1 (16.7) |
| On another immune modulator, n (%) | |||
| Any | 0 (0) | 29 (36.7) | 1 (16.7) |
| IFN-γ | NA | 12 (15.2) | 0 (0) |
| 5-Aminosalicylates | NA | 21 (26.6) | 1 (16.7) |
| Azathioprine | NA | 4 (5.1) | 0 (0) |
| Biologic | NA | 5 (6.3) | 0 (0) |
| Other | NA | 11 (13.9) | 1 (16.7) |
NIH CC: National Institutes of Health Clinical Center, CGD: chronic granulomatous disease, IQR: interquartile range, NA: not applicable, TMP-SMX: trimethoprim-sulfamethoxazole.
a
Active GI symptoms: watery bowel movements (BM) or more than 2 BM per day or blood/mucus in stool or active fistulizing or perianal disease.
b
The 3 patients on prophylactic antibiotics include the 2 HL carriers and 1 carrier (non-HL and non-DUOX2-NCF2).