Table 3.
Lymphocyte subset for patients included in our study (n = 131).
| Patient | Mutation gene | ALC (×109/L) | CD3+ cells/μL (%) | CD19+ cells/μL (%) | CD16/56+ cells/μL (%) |
|---|---|---|---|---|---|
| B+ SCID | |||||
| P006 | IL2RG | 0.4 | 9.2 (2.3) | 385.6 (96.4) | 2.4 (0.6) |
| P008 | IL2RG | 0.95 | 0 (0) | 931 (98) | 9.5 (1) |
| P011 | IL2RG | 1.16 | 3.48 (0.3) | 972 (83.8) | 2.3 (0.2) |
| P013 | IL2RG | 0.31 | 0 (0) | 270 (87) | 0 (0) |
| P014 | IL2RG | 2.93 | 468 (16) | 2,344 (80) | 58.6 (2) |
| P015 | IL2RG | 0.51 | 0 (0) | 459 (90) | 10.2 (2) |
| P017 | IL2RG | 0.7 | 0.7 (0.1) | 663 (94.7) | 36.4 (5.2) |
| P018 | IL2RG | 1 | 20 (2) | 890 (89) | 0 (0) |
| P019 | IL2RG | 2.63 | 26.3 (1) | 2,525 (96) | 26.3 (1) |
| P020 | IL2RG | 0.38 | 22.8 (6) | 345.8 (91) | 0 (0) |
| P021b | IL2RG | 1.66 | 596 (35.9) | 1,061 (63.9) | 2 (0.12) |
| P022 | IL2RG | 0.33 | 7.59 (2.3) | 313.5 (95) | 6.6 (2) |
| P024b | IL2RG | 3.43 | 504 (14.7) | 2,867 (83.6) | 58.3 (1.7) |
| P025 | IL2RG | 1.4 | 0 (0) | 1,302 (93) | 42 (3) |
| P026 | IL2RG | 0.33 | 16.5 (5) | 290.4 (88) | 9.9 (3) |
| P027 | IL2RG | 1.1 | 5.5 (0.5) | 1,022 (92.9) | 14.3 (1.3) |
| P028 | IL2RG | 5 | 4,600 (92) | 300 (6) | 100 (2) |
| P030 | IL2RG | 0.94 | 16 (1.7) | 620.4 (66) | 192.7 (20.5) |
| P031 | IL2RG | 5.1 | 948 (18.6) | 3,042 (59.7) | 928.7 (18.2) |
| P032 | IL2RG | 1.1 | 11 (1) | 979 (89) | 110 (10) |
| P033 | IL2RG | 0.99 | 5 (0.5) | 585.1 (59.1) | 17.8 (1.8) |
| P034 | IL2RG | 1.34 | 0 (0) | 1,112 (83) | 160.8 (12) |
| P036 | IL2RG | 1.11 | 11.1 (1) | 455.1 (41) | 577 (52) |
| P038 | IL2RG | 0.6 | 240 (40) | 324 (54) | 33 (5.5) |
| P039 | IL2RG | 1.72 | 0 (0) | 1,170 (68) | 498.8 (29) |
| P041 | IL2RG | 0.62 | 12.4 (2) | 545.6 (88) | 37.2 (6) |
| P044 | IL2RG | 0.9 | 0 (0) | 846 (94) | 18 (2) |
| P045 | IL2RG | 1.84 | 0 (0) | 1,748 (95) | 73.6 (4) |
| P047 | IL2RG | 1.41 | 155.1 (11) | 1,197 (84.9) | 18.3 (1.3) |
| P048 | IL2RG | 4.94 | 0 (0) | 4,841 (98) | 98.8 (2) |
| P049 | IL2RG | 2.1 | 0 (0) | 2,079 (99) | 0 (0) |
| P050 | IL2RG | 0.53 | 5.3 (1) | 424 (80) | 21.2 (4) |
| P051 | IL2RG | 1.1 | 0 (0) | 1,067 (97) | 11 (1) |
| P052 | IL2RG | 1.86 | 223.2 (12) | 1,600 (86) | 0 (0) |
| P053 | IL2RG | 1 | 52 (5.2) | 892 (89.2) | N/A (N/A) |
| P055 | IL2RG | 0.9 | 9 (1) | 828 (92) | 9 (1) |
| P056 | IL2RG | 1.3 | 1 (0.08) | 1,282 (98.6) | 9.6 (0.74) |
| P058 | IL2RG | 1.3 | 0 (0) | 611 (47) | 18.2 (1.4) |
| P059 | IL2RG | 1.18 | 0 (0) | 1,133 (96) | 35.4 (3) |
| P060 | IL2RG | 1.5 | 45 (3) | 1,350 (90) | 30 (2) |
| P063a | IL2RG | 0.62 | 61.4 (9.9) | 484.2 (78.1) | 46.5 (7.5) |
| P069 | IL7R | 1.89 | 183.3 (9.7) | 1,111 (58.8) | 565.1 (29.9) |
| P070 | IL7R | 1.21 | 147.6 (12.2) | 756.3 (62.5) | 410.2 (33.9) |
| P071 | IL7R | 0.785 | 1.6 (0.2) | 148.4 (18.9) | 433.3 (55.2) |
| P072 | JAK3 | 2.52 | 1,738 (69) | 730.8 (29) | 0 (0) |
| P073 | JAK3 | 0.47 | 4.7 (1) | 437.1 (93) | N/A (N/A) |
| P074 | JAK3 | 0.35 | 91 (26) | 196 (56) | N/A (N/A) |
| P075 | JAK3 | 0.49 | 6.4 (1.3) | 266.1 (54.3) | 19.6 (4) |
| P076 | JAK3 | 1.5 | 12.6 (0.84) | 1,377 (91.77) | 54.5 (3.63) |
| P078 | RAG1 | 7.64 | 3,965 (51.9) | 267.4 (3.5) | 3,705 (48.5) |
| P091 | RFXANK | 1.59 | 624.9 (39.3) | 936.5 (58.9) | 47.7 (3) |
| P094 | N/A | 2.06 | 195.7 (9.5) | 1,788 (86.8) | 76.2 (3.7) |
| P098 | N/A | 1.23 | 764.2 (62.13) | 156.9 (12.76) | 263.1 (21.39) |
| P099 | N/A | 13.46 | 9,826 (73) | 1,346 (10) | 1,750 (13) |
| P109 | N/A | 0.88 | 295.7 (33.6) | 460.2 (52.3) | 89.5 (10.2) |
| P110 | N/A | 2.06 | 68 (3.3) | 1,593 (77.3) | 345.7 (16.8) |
| P111 | N/A | 1.46 | 18.3 (1.25) | 1,387 (95) | 6.6 (0.45) |
| P112 | N/A | 2.42 | 217.8 (9) | 1,500 (62) | 532.4 (22) |
| P115 | N/A | 1.84 | 18.4 (1) | 1,472 (80) | 294.4 (16) |
| P116 | N/A | 1.3 | 26 (2) | 1,040 (80) | 130 (10) |
| P117 | N/A | 2.1 | 396.9 (18.9) | 573.3 (27.3) | 136.5 (6.5) |
| P120 | N/A | 1.09 | 21.8 (2) | 1,030 (94.5) | 3.3 (0.3) |
| P121 | N/A | 0.5 | 20 (4) | 245 (49) | 205 (41) |
| P122 | N/A | 0.41 | 32.8 (8) | 278.8 (68) | 86.1 (21) |
| P123b | N/A | 1.28 | 65.3 (5.1) | 833.3 (65.1) | 381.4 (29.8) |
| P124 | N/A | 0.8 | 15.2 (1.9) | 724 (90.5) | 43.2 (5.4) |
| P126 | N/A | 0.84 | 342.7 (40.8) | 207.5 (24.7) | 197.4 (23.5) |
| P128 | N/A | 3.5 | 2,485 (71) | 455 (13) | 455 (13) |
| P137 | N/A | 0.9 | 9.9 (1.1) | 136.8 (15.2) | 419.4 (46.6) |
| B− SCID | |||||
| P001 | IL2RG | 0.14 | 0 (0) | 70 (50) | 1.4 (1) |
| P002 | IL2RG | 0.67 | 636.5 (95) | 13.4 (2) | 0 (0) |
| P003 | IL2RG | 3.6 | 3,456 (96) | 0 (0) | N/A (N/A) |
| P005 | IL2RG | 0.18 | 7.2 (4) | 3.6 (2) | 145.8 (81) |
| P064 | ADA | 0.21 | 4 (1.9) | 1 (0.48) | 16.8 (8) |
| P065 | DCLRE1C | 0.65 | 110.5 (17) | 26 (4) | 78 (12) |
| P066 | DCLRE1C | 1.2 | 36 (3) | 24 (2) | 1,080 (90) |
| P068 | DCLRE1C | 0.72 | 7.2 (1) | 0.72 (0.1) | 672.5 (93.4) |
| P079 | RAG1 | 0.96 | 144 (15) | 1.9 (0.2) | 796.8 (83) |
| P080 | RAG1 | 0.134 | 132 (98.6) | 0.04 (0.03) | 1.5 (1.1) |
| P083 | RAG1 | 0.34 | 80.6 (23.7) | 3.1 (0.9) | 190.1 (55.9) |
| P084 | RAG2 | 0.74 | 7.4 (1) | 7.4 (1) | 666 (90) |
| P087 | RAG2 | 2.55 | 2.6 (0.1) | 132.6 (5.2) | 2,020 (79.2) |
| P088 | RAG2 | 28.36 | 26,772 (94.4) | 0 (0) | 623.9 (2.2) |
| P092 | RFXANK | 1.019 | 276.1 (27.1) | 19.4 (1.9) | 25.5 (2.5) |
| P093 | N/A | 0.31 | N/A (N/A) | 2 (0.65) | 120.9 (39) |
| P095 | N/A | 3.38 | 3,191 (94.4) | 33.8 (1) | 33.8 (1) |
| P097 | N/A | 2.49 | 2,366 (95) | 18.9 (0.76) | 49.8 (2) |
| P100 | N/A | 0.489 | 477.8 (97.7) | 2.9 (0.6) | 4.9 (1) |
| P101 | N/A | 0.242 | 15 (6.19) | 2.9 (1.2) | 206.4 (85.3) |
| P102 | N/A | 0.09 | 41.1 (45.7) | 1.4 (1.6) | 19.5 (21.7) |
| P103 | N/A | 1.8 | 1,499 (83.3) | 3.6 (0.2) | 257.4 (14.3) |
| P104 | N/A | 0.138 | 26.2 (19) | 1.4 (1) | 93.8 (68) |
| P105 | N/A | 0.72 | 144 (20) | 0.72 (0.1) | 537.1 (74.6) |
| P106 | N/A | 0.42 | 408.2 (97.2) | 1.3 (0.3) | 4.6 (1.1) |
| P107 | N/A | 0.65 | 76.7 (11.8) | 29.3 (4.5) | 490.8 (75.5) |
| P108 | N/A | 0.8 | 40 (5) | 14.4 (1.8) | 656 (82) |
| P114 | N/A | 0.59 | 11.8 (2) | 15.9 (2.7) | 472 (80) |
| P118 | N/A | 0.19 | 0 (0) | 39.9 (21) | 0.38 (0.2) |
| P125 | N/A | 0.84 | 579.6 (69) | 100.8 (12) | 134.4 (16) |
| P127 | N/A | 0.53 | 312.2 (58.9) | 73.1 (13.8) | 19.6 (3.7) |
| P130 | N/A | 0.29 | 70.8 (24.4) | 45.8 (15.8) | 150.8 (52) |
| P131 | N/A | 0.8 | 16 (2) | 0 (0) | 768 (96) |
| P132 | N/A | 0.74 | 583.1 (78.8) | 17.8 (2.4) | 96.2 (13) |
| P134 | N/A | 0.7 | 539 (77) | 0 (0) | 1.1 (0.16) |
| P135 | N/A | 1.03 | 20.6 (2) | 30.9 (3) | 875.5 (85) |
| P136 | N/A | 0.28 | 254.8 (91) | 2.8 (1) | 19.6 (7) |
| P138 | N/A | 0.22 | 72.6 (33) | 2.2 (1) | 129.8 (59) |
| P139 | N/A | 0.1 | 42.8 (42.8) | 4.1 (4.1) | 50 (50) |
| Others | |||||
| Maternal engraftment | |||||
| P077 | RAG1 | 52.23 | 49,619 (95) | 0 (0) | 2,089 (4) |
| Unknown | |||||
| P004a | IL2RG | 0.64 | 0 (0) | N/Aa | N/Aa |
| P004b | IL2RG | N/A | N/A (2) | N/A (85) | N/A (10) |
| P007 | IL2RG | N/A | N/A (0.2) | N/A (86.7) | N/A (6.7) |
| P012 | IL2RG | N/A | N/A (2) | N/A (95) | N/A (0) |
| P016 | IL2RG | N/A | N/A (N/A) | N/A (N/A) | N/A (N/A) |
| P023 | IL2RG | 0.5 | N/A (N/A) | N/A (N/A) | N/A (N/A) |
| P037 | IL2RG | 1.6 | N/A (N/A) | N/A (N/A) | N/A (N/A) |
| P040 | IL2RG | N/A | N/A (16) | N/A (82) | N/A (0) |
| P042 | IL2RG | N/A | N/A (2) | N/A (95) | N/A (1) |
| P046 | IL2RG | N/A | N/A (0) | N/A (93) | N/A (2) |
| P057 | IL2RG | N/A | N/A (0) | N/A (89) | N/A (0) |
| P062 | IL2RG | 5.4 | N/A (N/A) | N/A (N/A) | N/A (N/A) |
| P081 | RAG1 | N/A | N/A (1.5) | N/A (0.52) | N/A (74.1) |
| P085 | RAG2 | N/A | N/A (13) | N/A (0.1) | N/A (24) |
| P086 | RAG2 | N/A | N/A (0.67) | N/A (0) | N/A (76) |
| P089 | RAG2 | N/A | N/A (N/A) | N/A (N/A) | N/A (N/A) |
| P096 | N/A | 0.26 | N/A (N/A) | N/A (N/A) | N/A (N/A) |
| P113 | N/A | N/A | N/A (1) | N/A (87) | N/A (4) |
| P119 | N/A | N/A | N/A (3) | N/A (67.5) | N/A (25.4) |
| P129 | N/A | 0.22 | N/A (N/A) | N/A (N/A) | N/A (N/A) |
| P133 | N/A | 0.6 | N/A (N/A) | N/A (N/A) | N/A (N/A) |
| P140 | N/A | N/A | N/A (2.8) | N/A (0.6) | N/A (90) |
B+ SCID was defined as having ≥134 CD19+ cells/μL and B− SCID was defined as having <134 CD19+ cells/μL. ALC, absolute lymphocyte count; N/A, not available.
aMedical record documented as “raised”.
bALC was not provided, derived by summation of CD3+ cells, CD19+ cells, and CD16/56+ cells, in P024 the ALC was documented as 2.7 × 109/L in separate test.