Table 2.
Laboratory data for patients with SASH3 mutation at the time of genetic diagnosis
| Reference range | P1 | P2 | P3 | P4 | |
|---|---|---|---|---|---|
| Age at genetic diagnosis, years | 19 | 50 | 27 | 56 | |
| SASH3 variant | p.R347C | p.R288X | p.R288X | p.R245X | |
| White blood cell count | 4.23-9.07 | 2.53 (L) | 1.89 (L) | 2.68 (L) | 4.11 (L) |
| Hemoglobin, g/dL | 13.7-17.5 | 15.6 | 9.5 (L) | 11.7 (L) | 15.2 |
| Platelet count × 103/μL | 161-347 | 156 (L) | 216 | 46 (L) | 291 |
| Absolute lymphocyte count × 103/μL | 1.32-3.57 | 1.33 | 0.58 (L) | 2.01 | 0.56 (L) |
| Absolute neutrophil count × 103/μL | 1.78-5.38 | 0.38 (L) | 1.09 (L) | 0.60 (L) | 2.74 |
| CD3+ cells per μL | 714-2266 | 1294 | 530 (L) | 2002 | 339 (L) |
| CD4+CD3+ cells per μL | 359-1565 | 140 (L) | 393 | 145 (L) | 133 (L) |
| CD4+CD62L+CD45RA+CD3+ cells per μL | 102-1041 | 32 (L) | 16 (L) | 0 (L) | 1 (L) |
| CD4+CD62L+CD45RA–CD3+ cells per μL | 162-614 | 53 (L) | 220 | 121 (L) | 105 (L) |
| CD4+CD62L–CD45RA–CD3+cells per μL | 42-225 | 20 (L) | 149 | 24 (L) | 26 (L) |
| CD4+CD62L–CD45RA+CD3+ cells per μL | 0-29 | 35 (H) | 8 | 0 | 0 |
| CD4+CD25hiCD127low, % of CD4+ cells | 3-10 | 2.24 (L) | 2.27 (L) | 0.97 (L) | 5.3 |
| CD8+CD3+ cells per μL | 178-853 | 1001 (H) | 125 (L) | 1214 (H) | 191 |
| CD8+CD62L+CD45RA+CD3+ cells per μL | 85-568 | 181 | 39 (L) | 237 | 42 (L) |
| CD8+CD62L+CD45RA–CD3+ cells per μL | 25-180 | 37 | 41 | 28 | 121 |
| CD8+CD62L–CD45RA–CD3+ cells per μL | 24-175 | 52 | 23 (L) | 40 | 9 (L) |
| CD8+CD62L–CD45RA+CD3+ cells per μL | 11-172 | 733 (H) | 21 | 907 (H) | 20 |
| CD19+ cells per μL | 61 -321 | 4 (L) | 13 (L) * | 0 (L) * | 8 (L) * |
| CD3–CD16+CD56+ cells per μL | 126-729 | 33 (L) | 36 (L) | 0 (L) | 124 (L) |
| Serum IgG, mg/dL | 700-1600 | 813 | 1425† | 1364† | 173 (L) |
| Serum IgA, mg/dL | 70-400 | 82 | <5 (L) | <5 (L) | <5 (L) |
| Serum IgM, mg/dL | 40-230 | 26 (L) | 755 (H) | <5 (L) | <5 (L) |
| Anti-pneumococcal antibody (proportion of serotypes with positive antibody titer) | Positive: >1.3 μg/mL | 14/23 | N/A | N/A | 6/23 |
| Anti-tetanus IgG, IU/mL | Positive: ≥0.01 | 0.48 | N/A | N/A | 0.29 |
| Antidiphtheria IgG, IU/mL | Positive: >0.01 | >1.00 | N/A | N/A | 0.04 |
| Anti-Haemophilus influenzae IgG, mg/L | Positive: ≥1.0 | 1.79 | N/A | N/A | ND |
| Anti-rubella IgG, IU/mL | Positive: >10 | 2.2 | N/A | N/A | ND |
| Anti-nuclear antibody, EU | 0.0-0.9 | 1.0 (H) | 1.5 (H) | 0.0 | ND |
| Anti-thyroid peroxidase IgG, IU/mL | 0.0-34.9 | Negative | 73.4 (H) | 40.7 (H) | ND |
| Epstein-Barr viremia, log10 IU/mL | <2.07 log | Negative | Negative | Negative | |
| Cytomegalovirus viremia, log10 IU/mL | Negative | Negative | Negative | Negative |
Abnormal values are in bold.
EU, ELISA units; H, high; L, low; N/A, not available; ND, not done.
*
Patients who had received rituximab.
†
Patients who had received immunoglobulin replacement therapy.