Immunologic findings
| . | Patient 1 . | Patient 2 . | Patient 3 . | ||||
|---|---|---|---|---|---|---|---|
| Age | 37 y | 38 y | 2 wk | 8 mo | 17 mo | 4 y | 14 y |
| CD3+ | 79 (708-2227) | 209 (714-2266) | 295 (2500-5500) | 235 | 128 | 193 (1051-3031) | 137 |
| CD3+CD4+ | 36 (479-1445) | 124 (359-1565) | 270 (1600-4000) | 192 | 103 | 84 (548-1720) | 47 |
| CD3+CD8+ | 20 (225-753) | 81 (178-853) | 20 (560-1700) | 21 | 16 | 113 (332-1307) | 90 |
| CD19+ | 8 (68-444) | 13 (59-329) | 115 (300-2000) | 160 | 117 | 80 (203-1139) | 33 |
| CD3−CD16+CD56+ | 7 (48-474) | 9 (126-729) | 50 (170-1100) | 52 | 27 | 87 (138-1027) | 75 |
| Mitogen proliferation (PHA) | Normal | ND | ND | Normal | Normal | Normal (10 y) | ND |
| Antigen proliferation (Candida) | Absent | ND | ND | Absent | SI, 1.3 (>18)* | ND | |
| TREC | ND | ND | 13 (>22) | ND | ND | ND | ND |
| Serum IgG, mg/dL | ND | 176 (231-1411) | 405 | 1400 (572-1474) (7 y) | 1110 (716-1711) | ||
| Serum IgA, mg/dL | ND | 75 (91-499) | ND | 60 (16-83) | 58 (14-105) | 43.1 (69-309) (7 y) | 53.6 (68-378) |
| Serum IgM, mg/dL | ND | 14 (34-342) | ND | 26 (0-145) | 67 (19-146) | 19.5 (53-334) (7 y) | 11.9 |
| . | Patient 1 . | Patient 2 . | Patient 3 . | ||||
|---|---|---|---|---|---|---|---|
| Age | 37 y | 38 y | 2 wk | 8 mo | 17 mo | 4 y | 14 y |
| CD3+ | 79 (708-2227) | 209 (714-2266) | 295 (2500-5500) | 235 | 128 | 193 (1051-3031) | 137 |
| CD3+CD4+ | 36 (479-1445) | 124 (359-1565) | 270 (1600-4000) | 192 | 103 | 84 (548-1720) | 47 |
| CD3+CD8+ | 20 (225-753) | 81 (178-853) | 20 (560-1700) | 21 | 16 | 113 (332-1307) | 90 |
| CD19+ | 8 (68-444) | 13 (59-329) | 115 (300-2000) | 160 | 117 | 80 (203-1139) | 33 |
| CD3−CD16+CD56+ | 7 (48-474) | 9 (126-729) | 50 (170-1100) | 52 | 27 | 87 (138-1027) | 75 |
| Mitogen proliferation (PHA) | Normal | ND | ND | Normal | Normal | Normal (10 y) | ND |
| Antigen proliferation (Candida) | Absent | ND | ND | Absent | SI, 1.3 (>18)* | ND | |
| TREC | ND | ND | 13 (>22) | ND | ND | ND | ND |
| Serum IgG, mg/dL | ND | 176 (231-1411) | 405 | 1400 (572-1474) (7 y) | 1110 (716-1711) | ||
| Serum IgA, mg/dL | ND | 75 (91-499) | ND | 60 (16-83) | 58 (14-105) | 43.1 (69-309) (7 y) | 53.6 (68-378) |
| Serum IgM, mg/dL | ND | 14 (34-342) | ND | 26 (0-145) | 67 (19-146) | 19.5 (53-334) (7 y) | 11.9 |
CD3+ T cells, with CD4+ and CD8+ subsets, CD19+ B cells, and CD3−CD16+CD56+ NK cells were measured in the patients at the ages indicated. Counts per milliliter of blood are listed as well as the normal reference range for the testing laboratory. Where available, results for mitogen and antigen proliferation, T-cell receptor excision circle measurements, and immunoglobulin levels are included.
ND, not tested; PHA, phytohemagglutinin; SI, stimulation index.
SI was low; however, basal proliferation was high, skewing interpretation of results.