Table 1.
Immunologic studies in a patient with ZAP70 and RNF168 variants.
| Normal reference | ||||||
|---|---|---|---|---|---|---|
| Age (years) | 11 | 21 | 27 | 28 | 29 | |
| Immunoglobulins | ||||||
| IgG (mg/dL) | 641–1,353 | <400 | 1,020a | 1,320a | 1,534a | 1,375a |
| IgA (mg/dL) | 66–295 | 111 | 102 | ND | ND | |
| IgM (mg/dL) | 40–180 | 124 | 94 | ND | ND | |
| IgE (IU/mL) | 0–100 | ND | <1 | ND | <4 | |
| Lymphocyte subsets | ||||||
| Lymphocytes (cells/mm3) | 952 | 1,058 | 609 | 1,023 | ||
| Total CD3+ (cells/mm3) | 798–2,594 | 750 | 1,342 | 524 | 952 | |
| CD3+CD4+ (cells/mm3) | 579–1,841 | 604 | 1,049 | 443 | 508 | |
| CD3+CD8+ (cells/mm3) | 184–855 | 84 | 205 | 55 | 133 | |
| CD4+:CD8+ T cell ratio | 1.13–3.5 | 7.2 | 5.1 | 8.1 | 3.8 | |
| CD16+/CD56+ (cells/mm3) | 89–472 | 119 | 128 | 12 | 152 | |
| CD19+ (cells/mm3) | 63–461 | 134 | 126 | 49 | 95 | |
| Proliferation testing (cpm) | ||||||
| PHA (10 µg/mL) | 163,507–415,087 | 47,124 | 62,544 | 82,419 | ND | |
| PHA (1.0 µg/mL) | 35,494–225,107 | 338 | 4,405 | ND | ND | |
| ConA (50 µg/mL) | 80,718–286,866 | 14,454 | 83,446 | ND | ND | |
| ConA (5.0 µg/mL) | 28,998–108,585 | 101 | 29,298 | ND | ND | |
| PWM (100 ng/mL) | 37,006–157,955 | 15,176 | 39,050 | ND | ND | |
| PWM (10 ng/mL) | 24,369–94,311 | 1,271 | 11,994 | ND | ND | |
| Candida antigen | ≥2,000 | 2 | 209 | 71 | ND | |
| Diphtheria antigen | ≥2,000 | ND | 48 | ND | ND | |
| Tetanus antigen | ≥2,000 | 8 | 0 | ND | ND | |
| Advanced testing | Normal reference | Patient result | ||||
| CD107a mobilization assay | ||||||
| Age (years) | 26 | |||||
| CD107a% expression | 11–35% | 5% | ||||
| CD107a median fluorescence intensity | 207–678 | 121 | ||||
| Colony survival assay | ||||||
| Age (years) | 28 | |||||
| Patient survival fraction | 37–63% | 8% | ||||
| Radiosensitive range | 7–21% | |||||
aOn IgG supplementation.
ConA, concanavalin A; ND, not tested; PHA, phytohemagglutinin; PWM, pokeweed mitogen.