Table 1. Patient cohort characteristics.
Table 1—source data 1. List of patient-parent trios with variants identified in genes outside the diagnostic IEI gene panel, or classified as risk factors, carriership or variants of uncertain significance.
The table displays information on inherited single nucleotide variants and small insertion-deletions or copy number variants that were identified after diagnostic in silico gene panel and/or exome-wide analysis prior to the systematic DNV analysis in this study.
elife-78469-table1-data1.zip (22.3KB, zip)
| Characteristic | Total N=123 |
|---|---|
| Demographics | |
| Age*, median (IQR) y | 9 (2-17) |
| <18 y, % | 67.4 |
| >18 y, % | 33.6 |
| Sex ratio, M:F | 50.4:49.6 |
| Distribution of clinical phenotypes † | |
| Severe combined immunodeficiency, n (%) | 9 (7.3) |
| Suspected SCID (low TRECs), n | 5 |
| Other, n | 4 |
| Combined immunodeficiency, n (%) | 22 (17.9) |
| Syndromal, n | 20 |
| Non-syndromal, n | 2 |
| Primary antibody deficiency, n (%) | 14 (11.4) |
| CVID, n | 14 |
| Agammaglobulinemia, n | 0 |
| Other, n | 0 |
| Immune dysregulation, n (%) | 20 (16.3) |
| HLH/EBV, n | 5 |
| Autoimmunity, n | 15 |
| Autoinflammatory syndrome, n (%) | 22 (17.9) |
| Periodic fever syndrome, n | 19 |
| Interferonopathy, n | 0 |
| Other, n | 3 |
| Phagocyte defect, n (%) | 5 (4.1) |
| Functional defect, n | 1 |
| Neutropenia/other, n | 4 |
| Innate/intrinsic immune defect, n (%) | 16 (13.0) |
| Bacterial/parasitic, n | 2 |
| MSMD/Viral, n | 7 |
| Other, n | 7 |
| Complement deficiencies, n (%) | 0 (0.0) |
| Bone marrow failure, n (%) | 10 (8.1) |
| Phenocopies of PIDs, n (%) | 0 (0.0) |
| Unclassified, n (%) | 5 (4.1) |
Abbreviations: IQR = interquartile range; SCID = severe combined immunodeficiency; TREC = T cell receptor excision circle; CVID = common variable immunodeficiency; HLH = haemophagocytic lymphohistiocytosis; EBV = Epstein-Barr virus; MSMD = Mendelian susceptibility to mycobacterial disease; PID = primary immunodeficiency.
*
The age at the time of genetic testing is indicated, since the age of onset has not been documented for all cases.
†
Categorization of phenotypes is based on the IUIS classification of 2019 (14).