Table 3.

Overview of patients with idiopathic T cell lymphopenia identified from TREC-based NBS

IDReferralT cells, per µl blood (% naive)aGenetic testing performedInfectionsProphylactic treatmentOther comorbidityFollow-up timebFollow-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 
IDReferralT cells, per µl blood (% naive)aGenetic testing performedInfectionsProphylactic treatmentOther comorbidityFollow-up timebFollow-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 

ND, not determined.

a

First immunophenotyping results after referral from NBS.

b

Refers to immunological follow-up specifically.

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