Available published data on TREC-based NBS including number of identified patients with SCID and AT
| Number of screened newborns . | Number of identified SCID . | Number of early identified AT . | TREC levels, (patient; cutoff) . | Other notable (clinical) findings . | Reference(s) . |
|---|---|---|---|---|---|
| 3,252,156 | 50 | 5 | 5/5 abnormal (4–18; cutoff copies per µl) | 5/213 (2.4%) abnormal screening results were AT Initial T cell counts of 800–1,323 cells per μL 1 patient presented with low IgG and IgA, normal IgM, and received Ig-RT | (19) (USA, California) (14) |
| 670,580 | 8 | 2 | 2/2 abnormal (cutoff and TREC levels NA) | 2/68 (3%) abnormal screening results were AT Initial CD3 counts were 1,474 and 945 cells per μL | (37) (USA, Wisconsin) |
| ∼700,000 | 6 | 4 | 4/4 abnormal (7–13; cutoff 25 copies per µl) | 4/63 (6.4%) of all abnormal screening results were AT 2/4 patients with AT showed increased IgM with decreased total IgG and IgA 3/4 patients with AT showed decreased T cell stimulation with PHA Diminished vaccination responses in AT | (15) (Canada) |
| 58,834 | 1 | 1 | Abnormal (5; cutoff copies per 3.2 mm punch) | 1/64 (1.6%) recalls for secondary testing resulted in AT KRECs also below cutoff Patient asymptomatic at 1 year, but with IgA deficiency | (40) (Sweden) |
| 1,900,00 | 25 SCID, 17 leaky SCID/Omenn syndrome | 1 | Abnormal (cutoff and TREC levels NA) | 1/88 (1.1%) of total abnormal screening results was AT 1/46 (2.17%) of syndromic causes of low TRECs was AT Patient underwent successful, uneventful HSCT procedure at age 8 mo (alive and well at 18 mo of age) | (39) (Germany) |
| NA | NA | 1 | Abnormal (65; cutoff 200 copies per uL) | Low T cells, low IgG and IgA with normal IgM. Hospital admission for infection, broad-spectrum antibiotics, Ig-replacement therapy, and antibiotic prophylaxis | (38) (USA, New York) |
| NA | NA | 1 | Abnormal (8; cutoff 10 copies per 3.2 mm punch) | Low T cells with Pneumocystis jiroveci Pneumonia (PJP) prophylaxis (cotrimoxazol), HIGM, and decreased IgA that spontaneously improved | (16) (Netherlands) |
| Number of screened newborns . | Number of identified SCID . | Number of early identified AT . | TREC levels, (patient; cutoff) . | Other notable (clinical) findings . | Reference(s) . |
|---|---|---|---|---|---|
| 3,252,156 | 50 | 5 | 5/5 abnormal (4–18; cutoff copies per µl) | 5/213 (2.4%) abnormal screening results were AT Initial T cell counts of 800–1,323 cells per μL 1 patient presented with low IgG and IgA, normal IgM, and received Ig-RT | (19) (USA, California) (14) |
| 670,580 | 8 | 2 | 2/2 abnormal (cutoff and TREC levels NA) | 2/68 (3%) abnormal screening results were AT Initial CD3 counts were 1,474 and 945 cells per μL | (37) (USA, Wisconsin) |
| ∼700,000 | 6 | 4 | 4/4 abnormal (7–13; cutoff 25 copies per µl) | 4/63 (6.4%) of all abnormal screening results were AT 2/4 patients with AT showed increased IgM with decreased total IgG and IgA 3/4 patients with AT showed decreased T cell stimulation with PHA Diminished vaccination responses in AT | (15) (Canada) |
| 58,834 | 1 | 1 | Abnormal (5; cutoff copies per 3.2 mm punch) | 1/64 (1.6%) recalls for secondary testing resulted in AT KRECs also below cutoff Patient asymptomatic at 1 year, but with IgA deficiency | (40) (Sweden) |
| 1,900,00 | 25 SCID, 17 leaky SCID/Omenn syndrome | 1 | Abnormal (cutoff and TREC levels NA) | 1/88 (1.1%) of total abnormal screening results was AT 1/46 (2.17%) of syndromic causes of low TRECs was AT Patient underwent successful, uneventful HSCT procedure at age 8 mo (alive and well at 18 mo of age) | (39) (Germany) |
| NA | NA | 1 | Abnormal (65; cutoff 200 copies per uL) | Low T cells, low IgG and IgA with normal IgM. Hospital admission for infection, broad-spectrum antibiotics, Ig-replacement therapy, and antibiotic prophylaxis | (38) (USA, New York) |
| NA | NA | 1 | Abnormal (8; cutoff 10 copies per 3.2 mm punch) | Low T cells with Pneumocystis jiroveci Pneumonia (PJP) prophylaxis (cotrimoxazol), HIGM, and decreased IgA that spontaneously improved | (16) (Netherlands) |