Table 4.
Summary of Available Clinical Data on Immune Reconstitution
| Patient No. | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Characteristic | 1 | 2 | 5 | 6 | 3 | 4 | 8 | 11 | 12 |
| Gene mutation | SAMD9 | SAMD9 | SAMD9 | SAMD9 | SAMD9 | SAMD9 | SAMD9L | SAMD9L | SAMD9L |
| MIRAGE phenotype | Yes | Yes | Yes | Yes | No | No | No | No | No |
| Lymphocyte enumeration | |||||||||
| 1 month post-HCT | |||||||||
| ALC per cumm | 570 | 678 | 470 | 252 | 924 | 546 | 288 | NA | 1512 |
| 2 months post-HCT | |||||||||
| ALC per cumm | 1970 | 1000 | 1320 | 864 | 2368 | 240 | 826 | NA | 112 |
| 3 months post-HCT | |||||||||
| ALC per cumm | 2080 | 1307 | 1650 | ND | ND | 1125 | 410 | NA | 370 |
| CD3 per cumm | 375 | 891 | ND | ND | ND | ND | ND | NA | NA |
| CD4 per cumm | 250 | 369 | ND | ND | ND | ND | ND | NA | NA |
| CD8 per cumm | 83 | 486 | ND | ND | ND | ND | ND | NA | NA |
| NK cells per cumm | 520 | 167 | ND | ND | ND | ND | ND | NA | NA |
| CD19 per cumm | 1145 | 249 | ND | ND | ND | ND | ND | NA | NA |
| Serum IgG, mg/dL | 123 | 1120 | 519 | 822 | ND | 395 | ND | NA | NA |
| 6 months post-HCT | |||||||||
| ALC per cumm | 2500 | 840 | 4630 | 1254 | ND | 544 | 935 | 980 | 981 |
| CD3 per cumm | 1150 | 726 | 2224 | 390 | ND | ND | ND | ND | 451 |
| CD4 per cumm | 600 | 308 | 1308 | 277 | ND | ND | ND | ND | 216 |
| CD8 per cumm | 500 | 377 | 828 | 86 | ND | ND | ND | ND | 212 |
| NK cells per cumm | 900 | 114 | 916 | 193 | ND | ND | ND | ND | 193 |
| CD19 per cumm | 450 | 0 | 1264 | 662 | ND | ND | ND | ND | 337 |
| Serum IgG, mg/dL | 346 | 254 | 915 | 752 | 522 | 218 | ND | 389 | 521 |
| 12 months post-HCT | |||||||||
| ALC per cumm | 6100 | 1801 | 8200 | 1938 | ND | 770 | 2220 | 1490 | 4070 |
| CD3 per cumm | 3841 | 999 | 6232 | 1212 | ND | ND | ND | 1356 | 2426 |
| CD4 per cumm | 1829 | 495 | 3526 | 737 | ND | ND | ND | 374 | 1548 |
| CD8 per cumm | 1890 | 459 | 2460 | 362 | ND | ND | ND | 884 | 829 |
| NK cells per cumm | 549 | 185 | 656 | 178 | ND | ND | ND | 97 | 422 |
| CD19 per cumm | 1646 | 617 | 1148 | 502 | ND | ND | ND | 127 | 1121 |
| Serum IgG, mg/dL | 759 | 623 | 371 | ND | 300 | 841 | 351 | NA | |
Patient 1 (SAMD9 with MIRAGE): Protein-losing enteropathy. Intravenous immunoglobulin (IVIG) infusions. Patient 2 (SAMD9 with MIRAGE): Chronic diarrhea. Patient 3 (SAMD9 without MIRAGE): Lymphocyte enumeration 3 years post-HCT, ALC 4555, CD3 3160, CD4 1330, CD8 1610, NK cells 480, CD19 740, all in per cumm. Patient 4 (SAMD9 without MIRAGE): Lymphocyte enumeration 3 years post-HCT, ALC 3700, CD3 2530, CD4 1090, CD8 1140, NK cells 400, CD19 770, all in per cumm. Patient 5 (SAMD9 with MIRAGE): IVIG infusions monthly until 1 year post-HCT. Patient 6 (SAMD9 with MIRAGE): IVIG infusions monthly until 6 months post-HCT. Patient 7 (SAMD9L): Not included in the table. ALC 286 on day +60. Graft failure. Patient 8 (SAMD9L): Lymphocyte enumeration 5 years post-HCT, ALC 3600, CD3 2630, CD4 1200, CD8 1310, NK cells 120, CD19 810, all in per cumm. Patient 9 (SAMD9L): Not included in the table. Underwent HCT 14 years ago. Data not available. Patient 10 (SAMD9L): No data. The patient died of transplant complications on day +23. Patient 11 (SAMD9L): Intermittent IVIG infusions. Patient 12 (SAMD9L): Intermittent IVIG infusions.
ALC indicates absolute lymphocyte count; ND, not done; NK, natural killer; IgG, immunoglobulin G.