Immunological characteristics of patients F1P1, F2P1, F2P2, and F2P3
| . | F1P1 . | F2P1 . | F2P2 . | F2P3 . |
|---|---|---|---|---|
| Age, y | 16 | 9 | 11 | 3 |
| Lymphocytes, /μL × 10−3 (normal range) | 0.7 (1.4-3.3) | 0.9 (1.9-3.7) | 1.5 (1.9-3.7) | 1.6 (2.3-5.4) |
| T-cell population (normal range) | ||||
| CD3+, /μL × 10−3 | 0.52 (1.0-2.2) | 0.40 (1.2-2.6) | 1.4 (1.2-2.6) | 0.54 (1.4-3.7) |
| TCRαβ/CD3+, % (92-98) | 54 | 99 | 87 | 94 |
| TCRγδ/CD3+, % (2-8) | 46 | 0.3 | 13 | 6 |
| CD4+, /μL × 10−3 | 0.13 (0.53-1.30) | 0.10 (0.60-1.50) | 0.16 (0.60-1.50) | 0.24 (0.70-2.20) |
| CD8+, /μL × 10−3 | 0.20 (0.33-0.92) | 0.41 (0.37-1.10) | 1.23 (0.37-1.10) | 0.26 (0.49-1.30) |
| CD31+CD45RA+/CD4+, % | 1 (42-55) | 2 (42-74) | 2 (42-74) | 31 (50-85) |
| Regulatory T cell CD4+CD25++, /μL | 4 (16-40)* | ND | 11 (80-130)† | 37 (80-130)† |
| CD45RA+/CD8+, % | 51 (61-91) | 36 (63-92) | 86 (63-92) | 94 (69-97) |
| CD45RA+CCR7+/CD8+, % | 1.3 (52-68) | 1 (52-68) | ND | ND |
| CD45RA+CCR7−/CD8+, % | 18 (16-28) | 80 (16-28) | ND | ND |
| HLA-Class-II/CD3+ ≤ 10, % | 49‡ | ND | 46‡ | ND |
| T-cell proliferation, cpm × 10−3 to: | ||||
| Phytohemagglutinin (n > 50) | 4 | ND | 7 | 8 |
| Anti-CD3 Ab (n > 30) | ND | 0 | 5 | 13 |
| PMA + ionomycin + IL2 (n > 80) | 12 | ND | 10 | 22 |
| Candida Ag (n > 10) | 0.8 | 0.8 | ND | 16.5 |
| Tetanus toxoid (n > 10) | 1 | 0.6 | ND | 19 |
| Varicella zoster virus (n > 10) | ND | 1.1 | 3.6 | ND |
| B-cell population | ||||
| B-lymphocyte (CD19+), /μL × 10−3 (normal range) | 0§ (0.11-0.57) | 0.42 (0.27-0.86) | 0.03 (0.27-0.86) | 0.60 (0.39-1.40) |
| CD27+/CD19+ memory, % | ND | 1 (> 10) | 13 (> 10) | ND |
| Natural killer cells (normal range) | ||||
| CD56+CD16+ per μL × 10−3 | 0.17 (0.10-0.48) | 0.36 (0.10-0.48) | 0.3 (0.10-0.48) | 0.42 (0.13-0.72) |
| Ig levels, mg/mL (normal range) | ||||
| IgM | 0.37 (0.55-1.77) | < 0.17 (l0.68-1.28) | 0.74 (0.54-1.53) | 0.73 (0.54-1.53) |
| IgG | 22.6 (4.8-14.) | 20.5 (8.3-14.3) | 15 (5.5-10.2) | 14.3 (5.5-10) |
| IgA | 2.19 (0.49-1.90) | 10.9 (1.02-1.94) | 3.24 (0.41-1.41) | 1.74 (0.41-1.41) |
| IgE, U/mL | 110 (10-100) | 12 (10-100) | ND | ND |
| Allo-hemagglutinins titer IgG | 1:32 (> 1:16) | ND | 1:4 (> 1:16) | 1:256 (> 1:16) |
| Abs following immunization (normal range) | ||||
| Anti-polio titer, × 10−1 (≥ 40) | 80/160/40 | 80/40/320 | > 1280/64/64 | ND |
| Anti-diphtheria toxoid, IU/mL (≥ 1) | < 0.1 | ND | ND | ND |
| Anti-tetanus toxoid, IU/mL (≥ 0.5) | 0.16¶ | ND | ND | ND |
| Anti–Haemophilus influenzae (≥ 3 μg/mL) | < 0.1 | < 0.1¶ | ND | ND |
| Anti–Streptococcus pneumoniae (> 3 μg/mL) | ND | < 3¶ | < 3¶ | ND |
| . | F1P1 . | F2P1 . | F2P2 . | F2P3 . |
|---|---|---|---|---|
| Age, y | 16 | 9 | 11 | 3 |
| Lymphocytes, /μL × 10−3 (normal range) | 0.7 (1.4-3.3) | 0.9 (1.9-3.7) | 1.5 (1.9-3.7) | 1.6 (2.3-5.4) |
| T-cell population (normal range) | ||||
| CD3+, /μL × 10−3 | 0.52 (1.0-2.2) | 0.40 (1.2-2.6) | 1.4 (1.2-2.6) | 0.54 (1.4-3.7) |
| TCRαβ/CD3+, % (92-98) | 54 | 99 | 87 | 94 |
| TCRγδ/CD3+, % (2-8) | 46 | 0.3 | 13 | 6 |
| CD4+, /μL × 10−3 | 0.13 (0.53-1.30) | 0.10 (0.60-1.50) | 0.16 (0.60-1.50) | 0.24 (0.70-2.20) |
| CD8+, /μL × 10−3 | 0.20 (0.33-0.92) | 0.41 (0.37-1.10) | 1.23 (0.37-1.10) | 0.26 (0.49-1.30) |
| CD31+CD45RA+/CD4+, % | 1 (42-55) | 2 (42-74) | 2 (42-74) | 31 (50-85) |
| Regulatory T cell CD4+CD25++, /μL | 4 (16-40)* | ND | 11 (80-130)† | 37 (80-130)† |
| CD45RA+/CD8+, % | 51 (61-91) | 36 (63-92) | 86 (63-92) | 94 (69-97) |
| CD45RA+CCR7+/CD8+, % | 1.3 (52-68) | 1 (52-68) | ND | ND |
| CD45RA+CCR7−/CD8+, % | 18 (16-28) | 80 (16-28) | ND | ND |
| HLA-Class-II/CD3+ ≤ 10, % | 49‡ | ND | 46‡ | ND |
| T-cell proliferation, cpm × 10−3 to: | ||||
| Phytohemagglutinin (n > 50) | 4 | ND | 7 | 8 |
| Anti-CD3 Ab (n > 30) | ND | 0 | 5 | 13 |
| PMA + ionomycin + IL2 (n > 80) | 12 | ND | 10 | 22 |
| Candida Ag (n > 10) | 0.8 | 0.8 | ND | 16.5 |
| Tetanus toxoid (n > 10) | 1 | 0.6 | ND | 19 |
| Varicella zoster virus (n > 10) | ND | 1.1 | 3.6 | ND |
| B-cell population | ||||
| B-lymphocyte (CD19+), /μL × 10−3 (normal range) | 0§ (0.11-0.57) | 0.42 (0.27-0.86) | 0.03 (0.27-0.86) | 0.60 (0.39-1.40) |
| CD27+/CD19+ memory, % | ND | 1 (> 10) | 13 (> 10) | ND |
| Natural killer cells (normal range) | ||||
| CD56+CD16+ per μL × 10−3 | 0.17 (0.10-0.48) | 0.36 (0.10-0.48) | 0.3 (0.10-0.48) | 0.42 (0.13-0.72) |
| Ig levels, mg/mL (normal range) | ||||
| IgM | 0.37 (0.55-1.77) | < 0.17 (l0.68-1.28) | 0.74 (0.54-1.53) | 0.73 (0.54-1.53) |
| IgG | 22.6 (4.8-14.) | 20.5 (8.3-14.3) | 15 (5.5-10.2) | 14.3 (5.5-10) |
| IgA | 2.19 (0.49-1.90) | 10.9 (1.02-1.94) | 3.24 (0.41-1.41) | 1.74 (0.41-1.41) |
| IgE, U/mL | 110 (10-100) | 12 (10-100) | ND | ND |
| Allo-hemagglutinins titer IgG | 1:32 (> 1:16) | ND | 1:4 (> 1:16) | 1:256 (> 1:16) |
| Abs following immunization (normal range) | ||||
| Anti-polio titer, × 10−1 (≥ 40) | 80/160/40 | 80/40/320 | > 1280/64/64 | ND |
| Anti-diphtheria toxoid, IU/mL (≥ 1) | < 0.1 | ND | ND | ND |
| Anti-tetanus toxoid, IU/mL (≥ 0.5) | 0.16¶ | ND | ND | ND |
| Anti–Haemophilus influenzae (≥ 3 μg/mL) | < 0.1 | < 0.1¶ | ND | ND |
| Anti–Streptococcus pneumoniae (> 3 μg/mL) | ND | < 3¶ | < 3¶ | ND |