Table 1. Patient Characteristics.
Some patients had multiple samples collected over time at different visits, thus the number of samples can exceed the number of patients indicated.
| Condition | Subject Count | Sample Count | Age at Sample Drawn |
Sex | Race | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Primary | Set Aside |
Serum Proteomics |
CBC + TBNK immune cell phenotyping |
Whole Blood Transcriptomics |
median [min-max] (Years) |
Male | Asian | Black/ African American |
Hawaiian/ Pacifier Islander |
Multiple Race |
White | Unknown | |
| p47-CGD | 18 | 4 | 31 | 33 | 32 | 36.8 [14.9-58.3] | 12 (54.5%) | - | 4 (18.2%) | - | - | 17 (77.3%) | 1 (4.5%) |
| X-CGD | 23 | 6 | 41 | 51 | 49 | 31.3 [7.6-52] | 28 (96.6%) | 1 (3.4%) | 4 (13.8%) | - | 1 (3.4%) | 22 (75.9%) | 1 (3.4%) |
| CARD14 DN | 2 | 0 | 2 | 2 | 1 | 13.25 [12.4-14.1] | 1 (50%) | - | 2 (100%) | - | - | - | - |
| CTLA4 | 4 | 1 | 7 | 8 | 10 | 31.6 [18.3-57.9] | 4 (80%) | - | - | - | - | 5 (100%) | - |
| DADA2 | 8 | 2 | 13 | 13 | 13 | 15.2 [7.4-26.3] | 7 (70%) | 1 (10%) | - | - | - | 8 (80%) | 1 (10%) |
| FCAS | 6 | 1 | 7 | 7 | 6 | 21.2 [2.7-55.8] | 3 (42.9%) | - | - | - | - | 4 (57.1%) | 3 (42.9%) |
| FMF | 10 | 2 | 12 | 12 | 13 | 53.6 [14.2-77.6] | 7 (58.3%) | - | - | - | - | 12 (100%) | - |
| GATA2 | 14 | 4 | 19 | 21 | 17 | 41.9 [16.4-81.8] | 4 (22.2%) | - | - | - | 1 (5.6%) | 15 (83.3%) | 2 (11.1%) |
| HIDS | 4 | 1 | 6 | 6 | 7 | 19.4 [10.4-20.4] | 2 (40%) | - | - | - | - | 5 (100%) | - |
| IL-12R | 2 | 1 | 3 | 4 | 4 | 21.4 [6.5-43.5] | 1 (33.3%) | - | - | - | 1 (33.3%) | 2 (66.7%) | - |
| LAD1 | 2 | 0 | 3 | 4 | 5 | 30.5 [30.3-38.4] | 2 (100%) | - | - | - | - | 2 (100%) | - |
| Muckle-Wells | 3 | 1 | 5 | 5 | 5 | 36.5 [7.9-43.8] | 2 (50%) | - | - | - | 1 (25%) | 3 (75%) | - |
| NEMO | 2 | 1 | 6 | 6 | 7 | 29.9 [8.9-39.2] | 3 (100%) | - | - | - | - | 3 (100%) | - |
| NEMO carrier | 2 | 0 | 2 | 2 | 2 | 24.1 [15.3-32.9] | 0 (0%) | - | - | - | - | 2 (100%) | - |
| PAPA Syndrome | 6 | 2 | 14 | 14 | 11 | 29.3 [17.5-60.1] | 5 (62.5%) | - | - | 1 (12.5%) | 1 (12.5%) | 6 (75%) | - |
| PGM3 | 6 | 1 | 9 | 11 | 10 | 15.5 [3.9-38.7] | 6 (85.7%) | - | - | - | - | 7 (100%) | - |
| PI3K | 9 | 2 | 13 | 17 | 15 | 14.75 [9.4-25.9] | 3 (27.3%) | 1 (9.1%) | 2 (18.2%) | - | - | 8 (72.7%) | - |
| STAT1 GOF | 15 | 4 | 31 | 34 | 32 | 29 [16.7-71.1] | 5 (26.3%) | - | 1 (5.3%) | - | - | 18 (94.7%) | - |
| STAT3 DN | 32 | 8 | 39 | 50 | 44 | 25.7 [6.2-59.9] | 21 (52.5%) | 1 (2.5%) | 5 (12.5%) | - | - | 30 (75%) | 4 (10%) |
| TERC | 2 | 0 | 2 | 2 | 2 | 36.65 [29.3-44] | 1 (50%) | - | - | - | - | 2 (100%) | - |
| TERT | 3 | 1 | 5 | 5 | 3 | 53.3 [28.5-59.3] | 3 (75%) | - | - | - | - | 4 (100%) | - |
| TRAPS | 10 | 3 | 14 | 14 | 13 | 30.7 [12-67.9] | 6 (46.2%) | - | - | - | - | 12 (92.3%) | 1 (7.7%) |
| Healthy | 34 | 8 | 42 | 43 | 44 | 33.2 [6.1-67.8] | 20 (47.6%) | 3 (7.1%) | 8 (19%) | - | 2 (4.8%) | 28 (66.7%) | 1 (2.4%) |