Table 2.
Distribution of genes and variants across IUIS categories based on original genetic report classifications
| IUIS category | Genes n |
Total variants n | P/LP n (%) | VUS n (%) |
|---|---|---|---|---|
| Immunodeficiencies affecting cellular and humoral immunity | 11 | 34 | 24 (70.6) | 9 (26.5) |
| CID with associated or syndromic features | 18 | 52 | 25 (48.1) | 10 (19.2) |
| Predominantly Antibody Deficiencies | 9 | 10 | 2 (20.0) | 5 (50.0) |
| Diseases of Immune Dysregulation | 17 | 40 | 7 (17.5) | 19 (47.5) |
| Congenital defects of phagocyte number or function | 12 | 30 | 17 (56.7) | 8 (26.7) |
| Defects in Intrinsic and Innate Immunity | 11 | 14 | 6 (42.9) | 6 (42.9) |
| Autoinflammatory Disorders | 16 | 40 | 6 (15.0) | 9 (22.5) |
| Complement Deficiencies | 4 | 7 | 3 (42.9) | 3 (42.9) |
| Bone Marrow Failure | 9 | 18 | 9 (50.0) | 9 (50.0) |
This table summarizes the distribution of reported IEI-related variant observations across IUIS disease categories in the genetically tested cohort of 232 patients, based on the classifications documented in the original genetic reports. “Genes, n” indicates the number of distinct genes identified within each IUIS category. “Total variants, n” indicates the number of reported variant observations within each category. Percentages for pathogenic/likely pathogenic (P/LP) variants and variants of uncertain significance (VUS) were calculated using the total number of reported variant observations within each IUIS category as the denominator