Table 4.
Diagnoses (not) detected by NBS for SCID in population-based screening cohorts identified by systematic review
| Author (year) | Ref | Location | Typical SCID detected by screening (N) | Other TCL detected by screening (N) | Diagnoses not detected by screening (N) |
|---|---|---|---|---|---|
| Chien et al. (2012) | [26] | Taiwan | IL2RG (1), RAG1 (1) | 22q11.2 deletion syndrome (5), other medical conditions (9), variant SCID (2) | None reported |
| Kwan et al. (2014) | [36] | USA | IL2RG (9), IL7RA (6), ADA (5), RAG1 (4), JAK3 (3), DCLRE1C (1), RAG2 (1), CD3D (1), TC7A (1), Pallister-Killian syndrome with tetrasomy 12p (1), undefined (10a) | Leaky RAG1 (4b), leaky RMRP (2), leaky IL2RG (1), leaky DCLRE1 (1), leaky undefined (2), DiGeorge (78)c, trisomy 21 (21), AT (4), trisomy 18 (4), other syndromes with T cell impairment (29), cardiac anomalies (30), multiple congenital anomalies (23), other secondary T cell impairment (64), premature birth alone (29), variant SCID (12), unspecified TCL (117) | dDelayed onset ADA-SCID (1), MHC II deficiency (2), Wiskott-Aldrich syndrome (2) |
aGenetic testing not completed in 4, for 6 patients no mutation was found with known SCID genes excluded
b1 patient with Omenn syndrome
c3 complete DiGeorge
dAs reported in [34]