Extended Data Table 2. Description of the NIHR BioResource - Primary Immunodeficiency cohort.
High-level clinical description and relevant clinical features were provided by recruiting clinicians. Index cases are patients recruited as sporadic cases or probands in pedigrees, and determined to be genetically unrelated by pairwise comparisons of common SNP genotypes in the WGS data. Numbers in brackets refer to the percentage of index cases in each category. Total number of patients is the sum of index cases and any affected relatives sequenced in this study.
| Clinical Description | Index Cases | Familial Disease | Male | Paediatric Disease Onset | Antibody (IgG/A/M) Deficiency | Auto-immune Features | Low CD4+ T cells | Malignancy | Total Sequenced Patients |
|---|---|---|---|---|---|---|---|---|---|
| Antibody Defect | 122 | 21 (17) |
52 (43) |
41 (34) |
122 (100) |
22 (18) |
12 (10) |
7 (6) |
144 |
| CVID | 443 | 50 (11) |
220 (50) |
103 (23) |
443 (100) |
126 (28) |
95 (21) |
35 (8) |
469 |
| CID | 141 | 26 (18) |
71 (50) |
77 (54) |
141 (100) |
26 (18) |
70 (49) |
19 (13) |
156 |
| SCID | 12 | 3 (25) |
8 (67) |
12 (100) |
0 | 0 | 10 (83) |
0 | 12 |
| Phagocyte disorder | 23 | 3 (13) |
8 (35) |
12 (52) |
1 (4) |
3 (13) |
4 (17) |
3 (13) |
27 |
| Severe Auto-immunity | 52 | 6 (12) |
28 (54) |
14 (27) |
22 (42) |
52 (100) |
8 (15) |
6 (12) |
53 |
| Auto-inflamatory Syndrome | 26 | 3 (12) |
11 (42) |
7 (27) |
3 (12) |
19 (73) |
6 (23) |
1 (4) |
27 |
| Unspecified PID | 67 | 7 (11) |
27 (42) |
18 (28) |
1 (2) |
2 (3) |
3 (5) |
4 (6) |
86 |
| Total | 886 | 119 (13) |
425 (48) |
284 (32) |
733 (83) |
250 (28) |
208 (23) |
75 (8) |
974 |