Table 1.
Demographics
| Overall (N = 100), n | Stratum A, typical SCID (N = 68), n (% or range) | Stratum B, atypical SCID (N = 32), n, (% or range) | P | |
|---|---|---|---|---|
| Sex | <.001* | |||
| Male | 61 | 49 (72) | 12 (38) | |
| Female | 39 | 19 (28) | 20 (62) | |
| Race/ethnicity | .050* | |||
| White/non-Hispanic | 43 | 25 (37) | 18 (56) | |
| White/Hispanic | 20 | 17 (25) | 3 (9) | |
| Asian | 11 | 5 (7) | 6 (19) | |
| African American | 9 | 8 (12) | 1 (3) | |
| Other | 17 | 13 (19) | 4 (13) | |
| Age at diagnosis, d | 27 (0-1513) | 43 (0-4916) | .453‡ | |
| Diagnosis trigger | .219† | |||
| NBS/FH | 60 | 42 (62) | 18 (56) | |
| Infection | 32 | 23 (34) | 9 (28) | |
| Other Clinical Signs | 8 | 3 (4) | 5 (16) | |
| Genotype | <.001† | |||
| IL2Rg | 33 | 31 (46) | 2 (6) | |
| JAK3 | 5 | 4 (6) | 1 (3) | |
| RAG 1, 2 | 25 | 7 (11) | 18 (57) | |
| Artemis | 3 | 1 (1) | 2 (6) | |
| LIG4 | 1 | 1 (1) | 0 | |
| IL7R | 9 | 9 (14) | 0 | |
| CD3d | 3 | 3 (4) | 0 | |
| ADA | 3 | 3 (4) | 0 | |
| TTC7R | 1 | 1 (1) | 0 | |
| RMRP | 1 | 0 | 1 (3) | |
| Zap70 | 1 | 0 | 1 (3) | |
| AK2 | 2 | 0 | 2 (6) | |
| Unknown | 13 | 8 (12) | 5 (16) | |
| Baseline immunity | ||||
| Median TRECs | 65† | 0 (0-200) | 0 (0-90) | .791‡ |
| Median polyclonal Vβ families, n/24 | 41† | 1 (0-20) | 10 (2-24) | <.001‡ |
Bold indicates statistically significant.
*
χ2 test.
†
Number of patients with a sample available for central testing.
‡
Kruskal-Wallis test.