Table 2 Summary of Immunologic and Genetic data in Artemis disease
ID | WBC (×103 /µl) | Lymphocyte (cell/µl) | Plt (cell*103/µl) | Hb (g/dl) | CD3 (cell/µl) | CD4 (cell/µl) | CD8 (cell/µl) | CD19 (cell/µl) | NK (cell/µl) | IgG (mg/dl) | IgA (mg/dl) | IgM (mg/dl) | IgE (IU/ml) | Anti-tetanus toxin IgG (mIU/ml) | Anti-Diphtheria toxin IgG (mIU /ml) | Mutation in DCLRE1C |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
P1 | 11.0 NL | 3740 (34%) NL | 685 H | 10.5 NL | 250.5 (6.7%) L | 235.62 (6.3%) L | 11.2 (0.3%) L | 22.4 (0.6%) L | 1555.8 (41.6%) NL | 80 L |  < 7 L |  < 7 L | 0.1 NL | ND | ND | Hom large deletion of exons 1–4 |
P2 | 14.3 NL | 2860 (20%) L | 439 NL | 10.3 L |  < 1 L |  < 1 L |  < 1 L |  < 1 L | 1601.6 (56%) NL | 835 NL | 8 L | 6 L | 0.1 NL | 0.02 L | 0.001 L | Hom c.362 + 1G > T |
P3 | 4.5 L | 1255.5 (27.9%) L | 380 NL | 9.6 L | 615.1 (49%) L | 75.3 (6%) L | 301.3 (24%) L | 6.2 (0.5%) L | 338.8 (27%) NL | 446 NL | 5 L | 134 NL | 3 NL | ND | ND | Hom c.632G > T, p.G211V |
P4 | 5.5 L | 3405 (68.1%) L | 411 NL | 12 NL | 2213 (65%) NL | 544 (16%) L | 1634.4 (48%) NL | 68.1 (2%) L | 1770.6 (54%) NL | 52 L | Undetectable | 33 L | 0.1 NL | ND | ND | Hom c.632G > T, p.G211V |
P5 | 4.4 L | 2217 (50.4%) NL | 244 NL | 13.3 NL | 257 (11.6%) L | 168 (7.59%) L | 101 (4.58%) L | Undetectable | 1773 (80%) NL | 173 L | 3 L | 11 L | 2 NL |  < 0.1 L |  < 0.1 L | Hom c.1250_1260 delCAATGACTGCA, p.S417YfsX459 |
P6 | 3.4 L | 2040 (60%) L | 460 H | 10.7 NL | 748 (22%) L | 102 (5%) L | 306 (15%) L | 61 (3%) L | 958, (47%) NL | 90 L | 15 NL | 55 NL | 15 L | ND | ND | Hom c. 1162 G > A, p.E388X |
P7 | 8.2 NL | 336.2 (4.1%) L | 200 NL | 11 NL | 14.7 (4.4%) L | 4.3 (1.3%) L | 6.7 (2%) L | 5.7 (1.7%) L | 171.4, (51%) NL | 371 NL | 23 NL | 82 NL | 89 H | ND | ND | Hom c.329 T > G, p.L110R |
P8 | 4.4 NL | 442 (10%) L | 671 H | 9 L | 1.7, (0.4%) L | 19.89 (4.5%) L | 30.9 (7%) L | 4.4 (1%) L | 397 (90%) NL | 15 L | 6.2 L | Undetectable | 23 H | ND | ND | Hom large deletion of exons 1–3 |
P9 | 9.5 NL | 2470 (26%) NL | 555 H | 10.2 NL | 1457 (59%) NL | 422 (17.1%) L | 1037.4 (42%) NL | 197.6 (8%) L | 1432.6 (58%) NL | 380 L |  < 5 L | 48 NL | ND | 0.01 L | 0.03 L | Hom c.41G > T, p.G14V |