Overview of patients with a heterozygous FOXN1 variant identified from TREC-based NBS
| ID | Varianta | Referral | T cells, per µl blood (% naive)b | Radiological assessment of thymus | Nail dystrophy and/or skin manifestations | Infections | Prophylactic treatment | Other comorbidity | Follow-up timec | Follow-up ongoing |
|---|---|---|---|---|---|---|---|---|---|---|
| FOX-1 | c.831-2A > G p.? Likely pathogenic | Non-urgent (pilot) | CD3+: 900 CD4+: 630 (41.3%) CD8+: 260 (92.3%) | ND | No | Viral infections, recurrent acute otitis media | Antiviral (for 3.5 mo, started 8.5 mo after referral) | No | >5 years | Yes |
| FOX-2 | c.311T > C p.(Phe104Ser) VUS | Urgent | CD3+: 1,080 CD4+: 820 (62.8%) CD8+: 250 (100%) | ND | No | No | No | JMML | 1 mo | No |
| FOX-3 | c.143del p.(Cys48fs) Pathogenic | Non-urgent | CD3+: 1,140 CD4+: 770 (ND) CD8+: 310 (ND) | ND | No | No | No | No | >2 years | No |
| FOX-4 | c.1079T > C p.(Leu360Pro) VUS | Urgent | CD3+: 1,320 CD4+: 1,040 (77.3%) CD8+: 300 (88.7%) RTE: 64% | ND | Eczema | No | No | Gastro-intestinal complaints | >1 year | No |
| FOX-5 | c.1267del p.(Leu423Cysfs*127) Likely pathogenic | Urgent | CD3+: 472 CD4+: 444 (61.9%) CD8+: 27 (72%) | Small (X-thorax) | No | No | Antibacterial (for 6 mo after referral), IGRT (for 5 mo, started 1 mo after referral) | No | >1.25 years | Yes |
| FOX-6 | c.143del p.(Cys48fs) Pathogenic | Urgent | CD3+: 1,050 CD4+: 840 (73.8%) CD8+: 210 (95.2%) | ND | No | No | No | No | >4 mo | Yes |
| ID | Variant | Referral | T cells, per µl blood (% naive) | Radiological assessment of thymus | Nail dystrophy and/or skin manifestations | Infections | Prophylactic treatment | Other comorbidity | Follow-up time | Follow-up ongoing |
|---|---|---|---|---|---|---|---|---|---|---|
| FOX-1 | c.831-2A > G | Non-urgent (pilot) | CD3+: 900 | ND | No | Viral infections, recurrent acute otitis media | Antiviral (for 3.5 mo, started 8.5 mo after referral) | No | >5 years | Yes |
| FOX-2 | c.311T > C | Urgent | CD3+: 1,080 | ND | No | No | No | JMML | 1 mo | No |
| FOX-3 | c.143del p.(Cys48fs) | Non-urgent | CD3+: 1,140 | ND | No | No | No | No | >2 years | No |
| FOX-4 | c.1079T > C | Urgent | CD3+: 1,320 | ND | Eczema | No | No | Gastro-intestinal complaints | >1 year | No |
| FOX-5 | c.1267del | Urgent | CD3+: 472 | Small (X-thorax) | No | No | Antibacterial (for 6 mo after referral), IGRT (for 5 mo, started 1 mo after referral) | No | >1.25 years | Yes |
| FOX-6 | c.143del p.(Cys48fs) | Urgent | CD3+: 1,050 | ND | No | No | No | No | >4 mo | Yes |
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