Table II.
Characteristics of AT patients whose newborn dried blood spots were tested for TRECS
| Patient | Ethnicity | Sex | Newborn DBS | Age at first symptoms | Age at diagnosis of AT | First immune panel, showing absolute lymphocyte number/μL at indicated age | Earliest AFP, μg/L (age) Normal <8 μg/L for age >2 y | Immune and hematologic manifestations | Current age or age at death | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| TREC | Actin | Result | Age | T | CD4 T | B | NK | ||||||||
| 1 | White | F | 3 | 7,690 | Positive | 2y | 2y 9m | 2y 9m | 1,162 | 995 | n/a | n/a | 131 (2y) | Lymphoma (6 y), granulomatous skin lesions (3 y) | d. 6y 3m |
| 2 | Multiple | F | 7 | 65,500 | Positive | 1y | 2y 8m | 2y 8m | 681 | 373 | n/a | n/a | 60 (2y 8m) | bronchiectasis | 16y |
| 3 | White | M | 14 | 16,400 | Positive | 5y | 5y 8m | 5y 8m | 406 | 70 | 42 | 175 | 310 (12y 3m) | Splenic granulomas (24 y), osteomyelitis (19 y), abdominal Burkitt lymphoma (14 y) | 25y |
| 4 | Hispanic | F | 19 | 33,500 | Positive | 8y | 11y 6m | 11y 6m | 740 | 475 | 142 | n/a | 62.8 (11y 7m) | None | 14y 11m |
| 5 | Hispanic | M | 22 | 20,500 | Positive | 1y | 3y m | 3y 4m | 443 | 227 | 173 | 421 | 108.1 (3y 4m) | Granulomatous skin lesions | 6y 2m |
| 6 | Hispanic | M | 24 | 36,800 | Positive | 1y 5m | 1y 7m | 19m | 295 | 125 | 100 | 210 | 16.8 (1y 7m) | None | 8y 0m |
| 7 | Asian | F | 25 | 31,900 | Positive | 1y | 11y | n/a | n/a | n/a | n/a | n/a | 164 (11y 11m) | Large B-cell lymphoma (13 y); fungal pneumonia (14 y) | 17y |
| 8 | Hispanic | F | 28 | 14,900 | Normal | 1y 4m | 3y 5m | 3y 5m | 338 | 180 | 128 | 255 | 86.8 (3y 7m) | None | 6y 2m |
| 9 | Hispanic | F | 30 | 61,300 | Normal | 3y | 11y 10m | 12y | 463 | 277 | 47 | n/a | 174 (11y 10m) | Bronchiectasis | 12y 2m |
| 10 | Hispanic | M | 39 | 34,700 | Normal | 2y | 7y 3m | 7y 9m | 1,069 | 534 | 196 | n/a | 127 (7y 6m) | Recurrent HSV; relapsed AML (10 y) | d. 10y 3m |
| 11 | Asian | F | 41 | 26,100 | Normal | 10m | 1y 6m | 23m | 176 | 132 | 522 | n/a | 48.7 (1y 9m) | None | 2y 6m |
| 12 | Hispanic | F | 101 | 88,100 | Normal | 1y 2m | 2y 11m | 6y 11m | 861 | 369 | 284 | n/a | 210 (6y 8m) | None | 8y 4m |
| 13 | Hispanic | F | 216 | 37,300 | Normal | 2y 6m | 4y 6m | 4y 6m | 1,571 | 428 | 238 | n/a | 37.6 (4y 6m) | Chronic sinusitis and otitis | 7y 6m |