Table II.
Immunologic data of patients with RAGD
| delT | delAA | Other | CD3+ T cells, absolute (× 10E9/L) | CD4+ T cells, absolute (× 10E9/L) | CD8+ cells, absolute | CD45RA (%) | γδT cells (%) | CD19+ cells, absolute (× 10E9/L) | NK cells, absolute (× 10E9/L) | |
|---|---|---|---|---|---|---|---|---|---|---|
| SCID | ||||||||||
| P1 | Homozygous | 0.06 (1.4-8.0) | 0.04 (0.9-5.5) | 0.01 (0.4-2.3) | 21.8 | 0.03 (0.6-3.1) | 0.08 (0.1-1.4) | |||
| P2 | Heterozygous | p.P874GfsX82 | 0.1 (2.4-6.9) | 0.06 (1.4-5.1) | 0.01 (0.6-2.2) | 32.1 | 24.4 | 0.01 (0.7-2.5) | 0.4 (0.1-1.0) | |
| P3 | Homozygous | 0.3 (1.6-6.7) | 0.06 (1.0-4.6) | 0.3 (0.4-2.1) | 0 (0.6-2.7) | 0.5 (0.2-1.2) | ||||
| P4 | Heterozygous | p.R559S | 0.3 (1.6-6.7) | 0.2 (1.0-4.6) | 0.04 (0.4-2.1) | 7.7 | 10 | 0 (0.6-2.7) | 0.1 (0.2-1.2) | |
| OS | ||||||||||
| P5 | Homozygous | 20.1 (2.3-7.0) | 7.56 (1.7-5.3) | 12.75 (0.4-1.7) | 4 | 0 (0.6-1.9) | 2.59 (0.2-1.4) | |||
| P6a | Homozygous | 3.7 (2.3-6.5) | 3.1 (1.5-5.0) | 0.4 (0.5-1.6) | 7.2 | 5.2 | 0.03 (0.6-3.0) | 0.8 (0.1-1.3) | ||
| P7a | Homozygous | 36 (2.3-6.5) | 10.7 (1.5-5.0) | 24.9 (0.5-1.6) | 3.1 | 1 | 0.03 (0.6-3.0) | 0.4 (0.1-1.3) | ||
| P8 | Homozygous | 3.93 (2.3-6.5) | 1.45 (1.5-5.0) | 2.19 (0.5-1.6) | 21.4 | 24.4 | 0.02 (0.6-3.0) | 0.88 (0.1-1.3) | ||
| P9 | Homozygous | 1.84 (2.3-6.5) | 1.48 (1.5-5.0) | 0.3 (0.5-1.6) | 4.6 | 3 | 0.004 (0.6-3.0) | 1.64 (0.1-1.3) | ||
| P10 | Heterozygous | p.R737H | 3.3 (2.3-7.0) | 0.32 (1.7-5.3) | 2.97 (0.4-1.7) | 0.3 | 0.1 | 0 (0.6-1.9) | 0.34 (0.2-1.4) | |
| P11 | Heterozygous | p.R559S | 4.33 (1.6-6.7) | 4 (1.0-4.6) | 0.27 (0.4-2.1) | 0.01 (0.6-2.7) | 0.93 (0.2-1.2) | |||
| P12 | Homozygous | 2.21 (2.3-6.5) | 1.34 (1.5-5.0) | 0.61 (0.5-1.6) | 0.07 (0.6-3.0) | 0.56 (0.1-1.3) | ||||
| P13 | Homozygous | 0.6 (2.4-6.9) | 0.6 (1.4-5.1) | 0.01 (0.6-2.2) | 4.8 | 2.9 | 0.07 (0.7-2.5) | 0.2 (0.1-1.0) | ||
| CID | ||||||||||
| P14b | Homozygous | 0.3 (0.9-4.5) | 0.1 (0.5-2.4) | 0.07 (0.3-1.6) | 35 | 49.5 | 0.4 (0.2-2.1) | 0.8 (0.1-1.0) | ||
| P15b | Homozygous | 0.5 (1.4-8.0) | 0.1 (0.9-5.5) | 0.2 (0.4-2.3) | 38.9 | 64.1 | 0.4 (0.6-3.1) | 2.9 (0.1-1.4) | ||
| P16c | Homozygous | 0.16 (1.6-6.7) | 0.07 (1.0-4.6) | 0.02 (0.4-2.1) | 26.9 | 46.3 | 0.09 (0.6-2.7) | 0.32 (0.2-1.2) | ||
| P17 | Homozygous | 2.7 (1.6-6.7) | 0.2 (1.0-4.6) | 1.5 (0.4-2.1) | 90.7 | 90.2 | 0.06 (0.6-2.7) | 0.7 (0.2-1.2) | ||
| P18 | Heterozygous | p.R759C | 0.53 (0.9-4.5) | 0.07 (0.5-2.4) | 0.12 (0.3-1.6) | 57.2 | 0.12 (0.2-2.1) | 1.32 (0.1-1.0) | ||
| P19 | Homozygous | 0.10 (1.6-6.7) | 0.01 (1.0-4.6) | 0.10 (0.4-2.1) | 97.5 | 0.04 (0.6-2.7) | 0.23 (0.2-1.2) | |||
| P20 | Homozygous | 0.77 (0.9-4.5) | 0.25 (0.5-2.4) | 0.24 (0.3-1.6) | 41.7 | 0.02∗ (0.2-2.1) | 0.18 (0.1-1.0) | |||
| P21 | Heterozygous | p.A444V | 0.12 (0.9-4.5) | 0.10 (0.5-2.4) | 0.06 (0.3-1.6) | 14.4 | 0.001 (0.2-2.1) | 0.25 (0.1-1.0) | ||
| P22c | Homozygous | 1.97 (1.6-6.7) | 0.42 (1.0-4.6) | 1.50 (0.4-2.1) | 42 | 0.29 (0.6-2.7) | 0.72 (0.2-1.2) | |||
Numbers in parentheses indicate normal values. Footnote symbols “a,” “b,” and “c” indicate relatives.
NK, Natural killer.
∗
Under rituximab treatment.