Table 1.
Outcomes of NGS IEI panel diagnostics, according to IUIS classification (23).
| Number of conclusive genetic diagnosis, n (% of total patients) | Inconclusive outcomes | No abnormalities in IEI gene panel | Overall diagnostic yield per IUIS disease category (%) | Total, n (%) | |||
|---|---|---|---|---|---|---|---|
| Risk factor, n (%) | Carriership, n (%) | VUS, n (%) | |||||
| Combined B- and T-cell deficiencies | 0 (0) | 2 (1.2) | 0 (0) | 2 (1.2) | 1 (0.6) | 0 | 5 (3.0) |
| Combined immunodeficiencies with syndromic or associated features | 3 (1.8) | 1 (0.6) | 5 (3.0) | 3 (1.8) | 13 (7.9) | 3/25 (12) | 25 (15.2) |
| Predominantly antibody deficiencies | 5 (3.0) | 8 (4.9) | 10 (6.1) | 12 (7.3) | 20 (12.1) | 5/55 (9.1) | 55 (33.3) |
| Diseases of immune dysregulation | 10 (6.1) | 1 (0.6) | 5 (3.0) | 11 (6.7) | 9 (5.5) | 10/26 (27.8) | 36 (21.8) |
| Phagocyte diseases | 5 (3.0) | 0 (0) | 0 (0) | 1 (0.6) | 12 (7.3) | 5/12 (41.7) | 12 (7.3) |
| Defects in intrinsic and innate immunity | 0 (0) | 0 (0) | 1 (0.6) | 0 (0) | 8 (4.8) | 0 | 8 (4.8) |
| Autoinflammatory diseases | 1 (0.6) | 1 (0.6) | 2 (1.2) | 7 (4.2) | 14 (8.5) | 1/14 (7.1) | 14 (8.5) |
| Complement deficiencies | 0 (0) | 0 (0) | 1 (0.6) | 0 (0) | 1 (0.6) | 0 | 2 (1.2) |
| Bone marrow failure | 0 (0) | 0 (0) | 0 (0) | 1 (0.6) | 0 (0) | 0 | 1 (0.6) |
| Other | 1 (0.6) | 0 (0) | 1 (0.6) | 1 (0.6) | 4 (2.4) | 1/7 (14.3) | 7 (4.2) |
| Total N (%) | 25 (15.2) | 13 (7.9) | 25 (15.2) | 38 (23) | 64 (38.8) | 25 | 165 (100) |