Overview of patients with idiopathic T cell lymphopenia identified from TREC-based NBS
| ID | Referral | T cells, per µl blood (% naive)a | Genetic testing performed | Infections | Prophylactic treatment | Other comorbidity | Follow-up timeb | Follow-up ongoing |
|---|---|---|---|---|---|---|---|---|
| ITCL-1 | Non-urgent (pilot) | CD3+: 980 CD4+: 680 (82.1%) CD8+: 310 (98.3%) | WES with SCID and PID gene panel filter | Viral upper respiratory tract | Antibacterial (for 2.2 years after referral) | No | >5.5 years | Yes |
| ITCL-2 | Non-urgent (pilot) | CD3+: 1,260 CD4+: 910 (ND) CD8+: 350 (ND) | WES with SCID gene panel filter | No | No | No | 1 year | No |
| ITCL-3 | Non-urgent (pilot) | CD3+: 1,020 CD4+: 590 (ND) CD8+: 450 (ND) | WES with SCID gene panel filter | No | No | No | 1 year | No |
| ITCL-4 | Non-urgent (pilot) | CD3+: 1160 CD4+: 830 (84.6%) CD8+: 330 (98.1%) | WES with SCID gene panel filter | No | No | No | 7 mo | No |
| ITCL-5 | Non-urgent (pilot) | CD3+: 1,350 CD4+: 780 (81.7%) CD8+: 530 (97.9%) | WES with SCID and PID gene panel filter | No | No | Extreme prematurity (<28 wk) | 1.5 years | No |
| ITCL-6 | Non-urgent | CD3+: 630 CD4+: 430 (70.2%) CD8+: 140 (67.1%) | WES with SCID gene panel filter | Viral upper respiratory tract and recurrent otitis | No | No | >3.5 years | Yes |
| ITCL-7 | Non-urgent | CD3+: 1,410 CD4+: 1,260 (80.8%) CD8+: 150 (96%) | WES with SCID and PID gene panel filter, SNP array, and WGS | No | Antibacterial (for 6 mo after referral), antifungal (for 2 mo after referral) | Okur-Chung syndrome | >2.5 years | No |
| ITCL-8 | Non-urgent | CD3+: 932 CD4+: 618 (59.2%) CD8+: 213 (81.7%) | WES with PID gene panel filter | No | No | No | >3.25 years | No |
| ITCL-9 | Urgent | CD3+: 850 CD4+: 620 (80.6%) CD8+: 210 (63.8%) | WES with SCID and PID gene panel filter and SNP array | No | Antibacterial (started 1 month after referral, still ongoing) | No | >2 years | Yes |
| ITCL-10 | Non-urgent | CD3+: 1,212 CD4+: 876 (59.8%) CD8+: 312 (94.2%) | WES with PID gene panel filter | No | No | Hiatal hernia | 2 years | No |
| ITCL-11 | Non-urgent | CD3+: 1,262 CD4+: 933 (63.6%) CD8+: 295 (86.1%) | WES with SCID and PID gene panel filter | No | No | No | >1.75 years | Yes |
| ITCL-12 | Urgent | CD3+: 1,090 CD4+: 790 (74.9%) CD8+: 280 (83.9%) | WES with SCID gene panel filter | No | No | No | >4 mo | Yes |
| ID | Referral | T cells, per µl blood (% naive) | Genetic testing performed | Infections | Prophylactic treatment | Other comorbidity | Follow-up time | Follow-up ongoing |
|---|---|---|---|---|---|---|---|---|
| ITCL-1 | Non-urgent (pilot) | CD3+: 980 | WES with SCID and PID gene panel filter | Viral upper respiratory tract | Antibacterial (for 2.2 years after referral) | No | >5.5 years | Yes |
| ITCL-2 | Non-urgent (pilot) | CD3+: 1,260 | WES with SCID gene panel filter | No | No | No | 1 year | No |
| ITCL-3 | Non-urgent (pilot) | CD3+: 1,020 | WES with SCID gene panel filter | No | No | No | 1 year | No |
| ITCL-4 | Non-urgent (pilot) | CD3+: 1160 | WES with SCID gene panel filter | No | No | No | 7 mo | No |
| ITCL-5 | Non-urgent (pilot) | CD3+: 1,350 | WES with SCID and PID gene panel filter | No | No | Extreme prematurity (<28 wk) | 1.5 years | No |
| ITCL-6 | Non-urgent | CD3+: 630 | WES with SCID gene panel filter | Viral upper respiratory tract and recurrent otitis | No | No | >3.5 years | Yes |
| ITCL-7 | Non-urgent | CD3+: 1,410 | WES with SCID and PID gene panel filter, SNP array, and WGS | No | Antibacterial (for 6 mo after referral), antifungal (for 2 mo after referral) | Okur-Chung syndrome | >2.5 years | No |
| ITCL-8 | Non-urgent | CD3+: 932 | WES with PID gene panel filter | No | No | No | >3.25 years | No |
| ITCL-9 | Urgent | CD3+: 850 | WES with SCID and PID gene panel filter and SNP array | No | Antibacterial (started 1 month after referral, still ongoing) | No | >2 years | Yes |
| ITCL-10 | Non-urgent | CD3+: 1,212 | WES with PID gene panel filter | No | No | Hiatal hernia | 2 years | No |
| ITCL-11 | Non-urgent | CD3+: 1,262 | WES with SCID and PID gene panel filter | No | No | No | >1.75 years | Yes |
| ITCL-12 | Urgent | CD3+: 1,090 | WES with SCID gene panel filter | No | No | No | >4 mo | Yes |
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