Table 2.
Immunological profiles of infants with low TRECs identified by screening.
| Values at diagnosis | Pt 1 | Pt 2a | Pt 3 | Pt 4 | Pt 5 |
|---|---|---|---|---|---|
| TRECs (>25 copies/μL) | 11b | 0 | 0, 0 | 0 | 0 |
| WBC (>5,000 /μL) | 4700 | 4400 | 3500 | 1100 | 700 |
| Neutrophils (>1,000 /μL) | 2540 | 2290 | 2120 | 8050 | 5500 |
| Lymphocytes (>2,500 /μL) | 1290 | 350 | 480 | 1560 | 300 |
| CD3 T cells (>2,500 /μL) | 632 | 46 | 1 | 116 | 0 |
| CD4 T cells (>1,600 /μL) | 439 | 39 | 1 | 116 | 0 |
| CD8 T cells (>560 /μL) | 206 | 7 | 0 | 19 | 0 |
| CD19 B cells (>300 /μL) | 310 | <4 | 0 | <10 | 0 |
| CD16/56 NK cells (>170 /μL) | 348 | 291 | 96 | 815 | 390 |
| CD4 naive cells (>1,200 /μL) | 167 | <1 | 4 | <1 | 0 |
| CD45 cell proliferation to PHA (>50%) | >50% | 0.9% | 0.4% | 3.3% | 0.5% |
| Maternal T cell engraftment detected by short tandem repeat DNA markers (% of total T cells) | Not done | 1% | 1% | 55% | Not detected |
| IgG (passive maternal IgG) | 709 | 1030 | 1038 | <100 | 684 |
| IgA (8-45 mg/dL) | 34 | 620 | <5 | <8 | <6 |
| IgM (10-40 mg/dL) | 87 | 20 | <5 | <25 | <5 |
| Molecular diagnosis | None (see text) | Homozygous mutation for SCID-Ac | Homozygous mutation for SCID-Ac | Homozygous mutation for SCID-Ac | Homozygous mutation for SCID-Ac |
| Values at 7 months of age, after vaccinations | |
|---|---|
| CD3 T cells (>1,900 /μL) | 729 |
| Anti-pneumococcal titers, protective/total tested | 8/12 |
| Anti-tetanus titer (>0.2 protective) | 3.2 |
a
This patient was listed in a previous publication [4]
b
Abnormal values for age in bold type
c
DCLRE1C exon 8, cDNA 597 C>A , causing TAC (tyrosine) to become TAA (termination codon); p Y192X.