Baseline clinical and demographic characteristics of patients by clinical classification
| | ID (n = 17) | AID (n = 24) | Non-ID/AID (n = 9) |
|---|---|---|---|
| Age at testing, mean (SD) | 35.2 (8.2) | 35.0 (15.7) | 42.8 (16.5) |
| Age at onset, years (SD) | 24.7 (14.7) | 23.3 (16.2) | 32.6 (21.9) |
| Disease duration, years, median (IQR) | 3.0 (1.1–23.5) | 8.0 (3.0–17.0) | 7.0 (1.8–10) |
| Female, n (%) | 10 (58.8) | 19 (79.2) | 5 (55.6) |
| Family history | | | |
| Same disease, n (%) | 1 (5.9) | 3 (12.5) | 0 |
| Similar symptoms, n (%) | 0 | 9 (37.5) | 1 (11.1) |
| Recurrent infections, n (%) | 10 (58.8) | 0 | 0 |
| Purpose of testing | | | |
| Differential diagnosis, n (%) | 15 (88.2) | 4 (16.7) | 3 (33.3) |
| Diagnostic clarification, n (%) | 2 (11.8) | 20 (83.3) | 6 (66.7) |
| Symptoms | | | |
| Periodic fever, n (%) | 0 | 24 (100) | 0 |
| Nonperiodic fever, n (%) | 4 (23.5) | 0 | 8 (88.9) |
| Arthralgia/arthritis, n (%) | 4 (23.5) | 15 (62.5) | 6 (66.7) |
| Chest or abdominal pain, n (%) | 2 (11.8) | 11 (45.8) | 1 (11.1) |
| Enterocolitis, n (%) | 1 (5.9) | 8 (33.3) | 1 (11.1) |
| Skin rash, n (%) | 2 (11.8) | 6 (25.0) | 4 (44.4) |
| Headache/meningitis, n (%) | 0 | 2 (8.3) | 1 (11.1) |
| Hearing loss, n (%) | 0 | 2 (8.3) | 0 |
| Laboratory data | | | |
| Lymphocyte count (µl), mean (SD) | 1,345 (629) | 1,696 (620) | 1,004 (476) |
| Serum IgG levels (mg/dl), median (IQR) | 715 (67–914) | 1,030 (900–1,261) | 1,356 (1,081–1,605) |
| Autoantibody positivity, n (%) | 0 | 2 (8.3) | 3 (33.3) |
| Pre-genetic treatment | | | |
| IVIG, n (%) | 12 (70.6) | 0 | 0 |
| Colchicine, n (%) | 0 | 14 (58.3) | 3 (33.3) |
| Canakinumab, n (%) | 0 | 2 (8.3) | 0 |
| Glucocorticoids, n (%) | 3 (17.6) | 5 (20.8) | 7 (77.8) |
| Immunosuppressants, n (%) | 1 (5.9) | 6 (25.0) | 3 (33.3) |
| | ID ( | AID ( | Non-ID/AID ( |
|---|---|---|---|
| Age at testing, mean (SD) | 35.2 (8.2) | 35.0 (15.7) | 42.8 (16.5) |
| Age at onset, years (SD) | 24.7 (14.7) | 23.3 (16.2) | 32.6 (21.9) |
| Disease duration, years, median (IQR) | 3.0 (1.1–23.5) | 8.0 (3.0–17.0) | 7.0 (1.8–10) |
| Female, | 10 (58.8) | 19 (79.2) | 5 (55.6) |
| | | | |
| Same disease, | 1 (5.9) | 3 (12.5) | 0 |
| Similar symptoms, | 0 | 9 (37.5) | 1 (11.1) |
| Recurrent infections, | 10 (58.8) | 0 | 0 |
| | | | |
| Differential diagnosis, | 15 (88.2) | 4 (16.7) | 3 (33.3) |
| Diagnostic clarification, | 2 (11.8) | 20 (83.3) | 6 (66.7) |
| | | | |
| Periodic fever, | 0 | 24 (100) | 0 |
| Nonperiodic fever, | 4 (23.5) | 0 | 8 (88.9) |
| Arthralgia/arthritis, | 4 (23.5) | 15 (62.5) | 6 (66.7) |
| Chest or abdominal pain, | 2 (11.8) | 11 (45.8) | 1 (11.1) |
| Enterocolitis, | 1 (5.9) | 8 (33.3) | 1 (11.1) |
| Skin rash, | 2 (11.8) | 6 (25.0) | 4 (44.4) |
| Headache/meningitis, | 0 | 2 (8.3) | 1 (11.1) |
| Hearing loss, | 0 | 2 (8.3) | 0 |
| | | | |
| Lymphocyte count (µl), mean (SD) | 1,345 (629) | 1,696 (620) | 1,004 (476) |
| Serum IgG levels (mg/dl), median (IQR) | 715 (67–914) | 1,030 (900–1,261) | 1,356 (1,081–1,605) |
| Autoantibody positivity, | 0 | 2 (8.3) | 3 (33.3) |
| | | | |
| IVIG, | 12 (70.6) | 0 | 0 |
| Colchicine, | 0 | 14 (58.3) | 3 (33.3) |
| Canakinumab, | 0 | 2 (8.3) | 0 |
| Glucocorticoids, | 3 (17.6) | 5 (20.8) | 7 (77.8) |
| Immunosuppressants, | 1 (5.9) | 6 (25.0) | 3 (33.3) |
This table summarizes the demographic and clinical features of the 50 adult patients classified into three subgroups based on pre-genetic clinical presentation: ID (n = 17), AID (n = 24), and non-ID/AID (n = 9). Variables include age at genetic testing, sex, disease duration, family history (same disease or similar symptoms), clinical manifestations (e.g., fever pattern, arthralgia, skin rash), laboratory values (serum IgG levels, lymphocyte count, autoantibody positivity), and treatment history prior to genetic diagnosis.
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