ESID-R patient characteristics
| Covariate . | Values . | Whole cohort . | CID (I) . | Syndromic (II) . | PAD (III) . | PIRD (IV) . | Phagocyte (V) . | Innate (VI) . | AIS (VII) . | Complement (VIII) . | BMF (IX) . | Phenocopies (X) . | other . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N = 30,628 . | N = 2,531 . | N = 4,239 . | N = 15,123 . | N = 2,171 . | N = 2,548 . | N = 823 . | N = 1,042 . | N = 1,482 . | N = 85 . | N = 30 . | N = 554 . | ||
| Gender | M | 16,767 (54.8%) | 1,470 (58.1%) | 2,473 (58.3%) | 7,782 (51.5%) | 1,329 (61.2%) | 1,693 (66.5%) | 387 (47%) | 575 (55.2%) | 681 (46%) | 57 (67.1%) | 19 (63.3%) | 301 (54.3%) |
| F | 13,855 (45.2%) | 1,061 (41.9%) | 1,766 (41.7%) | 7,337 (48.5%) | 841 (38.8%) | 854 (33.5%) | 436 (53%) | 467 (44.8%) | 801 (54%) | 28 (32.9%) | 11 (36.7%) | 253 (45.7%) | |
| Year of birth | | 1997 (1976; 2008) | 2007 (1997; 2014) | 2005 (1995; 2012) | 1984 (1963; 2001) | 2004 (1993; 2011) | 2002 (1991; 2010) | 2003 (1991; 2011) | 2008 (1999; 2013) | 1991 (1972; 2006) | 2004 (1987; 2011) | 2001.5 (1995; 2008.5) | 1998 (1974; 2007) |
| Familial case | N | 21,854 (76.6%) | 1,725 (72.9%) | 3,002 (74.1%) | 11,949 (85.4%) | 1,266 (61.1%) | 1,468 (65.4%) | 492 (62.2%) | 771 (76.6%) | 645 (46.5%) | 57 (75%) | 28 (93.3%) | 451 (87.7%) |
| Y | 6,681 (23.4%) | 641 (27.1%) | 1,047 (25.9%) | 2,049 (14.6%) | 805 (38.9%) | 778 (34.6%) | 299 (37.8%) | 236 (23.4%) | 742 (53.5%) | 19 (25%) | 2 (6.7%) | 63 (12.3%) | |
| Consanguinity | N | 24,731 (87.2%) | 1,426 (60.8%) | 3,247 (82.1%) | 13,381 (95.5%) | 1,602 (78.8%) | 1,699 (75.6%) | 589 (77.3%) | 920 (93.2%) | 1,303 (93.1%) | 66 (84.6%) | 28 (100%) | 470 (92.7%) |
| Y | 3,624 (12.8%) | 921 (39.2%) | 708 (17.9%) | 631 (4.5%) | 432 (21.2%) | 547 (24.4%) | 173 (22.7%) | 67 (6.8%) | 96 (6.9%) | 12 (15.4%) | 0 (0%) | 37 (7.3%) | |
| Age at onset of symptoms | | 3 (0.4; 14.1) | 0.3 (0; 1.6) | 0.5 (0; 2.2) | 8 (2; 30) | 2.2 (0.3; 7.5) | 0.7 (0.1; 3) | 1.2 (0.2; 3.8) | 2.8 (0.7; 5) | 8 (3; 18) | 3 (0.3; 8.1) | 2.8 (0.6; 4.9) | 3 (0.7; 15.4) |
| Immune dysregulation at onset | N | 21,482 (77.2%) | 1,712 (77.5%) | 3,242 (84.1%) | 11,175 (80.3%) | 616 (31.6%) | 1,944 (86.2%) | 632 (84.9%) | 536 (55%) | 1,182 (88.3%) | 49 (67.1%) | 4 (13.3%) | 390 (80.7%) |
| Y | 6,347 (22.8%) | 498 (22.5%) | 613 (15.9%) | 2,741 (19.7%) | 1,335 (68.4%) | 311 (13.8%) | 112 (15.1%) | 438 (45%) | 156 (11.7%) | 24 (32.9%) | 26 (86.7%) | 93 (19.3%) | |
| Infection at onset | N | 8,133 (28.9%) | 436 (19.6%) | 2,195 (56.6%) | 1,920 (13.6%) | 1,161 (59.6%) | 590 (26%) | 108 (14.4%) | 705 (72.5%) | 827 (61.5%) | 44 (60.3%) | 19 (67.9%) | 128 (26.3%) |
| Y | 19,961 (71.1%) | 1,786 (80.4%) | 1,680 (43.4%) | 12,202 (86.4%) | 787 (40.4%) | 1,681 (74%) | 643 (85.6%) | 267 (27.5%) | 518 (38.5%) | 29 (39.7%) | 9 (32.1%) | 359 (73.7%) | |
| Malignancy at onset | N | 27,294 (98.3%) | 2,180 (98.6%) | 3,766 (97.8%) | 13,620 (98.1%) | 1,885 (97.1%) | 2,235 (99.4%) | 741 (99.7%) | 969 (99.8%) | 1,333 (99.8%) | 69 (94.5%) | 25 (89.3%) | 471 (97.7%) |
| Y | 479 (1.7%) | 30 (1.4%) | 85 (2.2%) | 269 (1.9%) | 57 (2.9%) | 13 (0.6%) | 2 (0.3%) | 2 (0.2%) | 3 (0.2%) | 4 (5.5%) | 3 (10.7%) | 11 (2.3%) | |
| Syndromic manifestations at onset | N | 24,549 (88.3%) | 2,046 (92.6%) | 1,651 (42.7%) | 13,574 (97.7%) | 1,798 (92.5%) | 2,075 (92.3%) | 683 (91.8%) | 919 (94.6%) | 1,274 (95.4%) | 40 (54.8%) | 28 (100%) | 461 (95.4%) |
| Y | 3,253 (11.7%) | 164 (7.4%) | 2,220 (57.3%) | 320 (2.3%) | 145 (7.5%) | 174 (7.7%) | 61 (8.2%) | 52 (5.4%) | 62 (4.6%) | 33 (45.2%) | 0 (0%) | 22 (4.6%) | |
| Other onset | N | 24,466 (87.9%) | 1,992 (90.1%) | 3,298 (85.5%) | 12,947 (93.1%) | 1,782 (91.6%) | 2,086 (92.7%) | 685 (92.1%) | 545 (55.6%) | 647 (48.1%) | 59 (80.8%) | 28 (96.6%) | 397 (81.9%) |
| Y | 3,366 (12.1%) | 220 (9.9%) | 559 (14.5%) | 963 (6.9%) | 163 (8.4%) | 164 (7.3%) | 59 (7.9%) | 436 (44.4%) | 699 (51.9%) | 14 (19.2%) | 1 (3.4%) | 88 (18.1%) | |
| No clinical symptoms | N | 27,605 (94.1%) | 2,188 (91%) | 3,770 (92.5%) | 13,875 (95.9%) | 1,926 (91.5%) | 2,238 (92.3%) | 735 (91.9%) | 966 (97.2%) | 1,326 (91.2%) | 71 (91%) | 28 (100%) | 482 (97.6%) |
| Y | 1,725 (5.9%) | 217 (9%) | 306 (7.5%) | 595 (4.1%) | 180 (8.5%) | 187 (7.7%) | 65 (8.1%) | 28 (2.8%) | 128 (8.8%) | 7 (9%) | 0 (0%) | 12 (2.4%) | |
| Age at clinical diagnosis (CD) (years) | | 8.2 (2; 30.1) | 0.7 (0.3; 4.6) | 2.4 (0.4; 6.9) | 22 (6.2; 44) | 5.1 (1; 13) | 2 (0.5; 7) | 4.2 (1.1; 14) | 5 (2.7; 11.4) | 15 (5.2; 28.8) | 5 (1.3; 13.7) | 5.2 (3; 9.8) | 7.5 (2.3; 34.1) |
| Delay between onset and CD (years) | | 1.3 (0.1; 5.1) | 0.2 (0; 1.3) | 0.8 (0; 3.9) | 2.7 (0.7; 7.5) | 0.4 (0; 3.4) | 0.5 (0.1; 2.2) | 1 (0.1; 5.6) | 1.5 (0.5; 4) | 1.1 (0.1; 7) | 0.5 (0.1; 2.1) | 0.9 (0.3; 3.9) | 1.7 (0.3; 4.7) |
| Genetics | Mutation found | 12,774 (44.5%) | 1,470 (63.1%) | 3,647 (88.8%) | 2,251 (16%) | 1,671 (80.8%) | 1,693 (71.8%) | 529 (68.1%) | 662 (65.3%) | 772 (55.6%) | 49 (71%) | 30 (100%) | 0 (0%) |
| No mutation found | 2,852 (9.9%) | 319 (13.7%) | 79 (1.9%) | 1,850 (13.1%) | 195 (9.4%) | 106 (4.5%) | 81 (10.4%) | 71 (7%) | 27 (1.9%) | 9 (13%) | 0 (0%) | 115 (24.7%) | |
| Not tested | 11,956 (41.7%) | 403 (17.3%) | 325 (7.9%) | 9,398 (66.8%) | 125 (6%) | 478 (20.3%) | 97 (12.5%) | 250 (24.7%) | 569 (41%) | 8 (11.6%) | 0 (0%) | 303 (65%) | |
| Pending | 1,097 (3.8%) | 136 (5.8%) | 57 (1.4%) | 576 (4.1%) | 76 (3.7%) | 80 (3.4%) | 70 (9%) | 31 (3.1%) | 20 (1.4%) | 3 (4.3%) | 0 (0%) | 48 (10.3%) | |
| Age at genetic diagnosis (GD) | | 5.5 (1.1; 15) | 0.9 (0.3; 6.7) | 3.2 (0.4; 9.7) | 9.4 (2.9; 25) | 8.3 (1.8; 17.3) | 4.4 (1.1; 12.7) | 10 (3.2; 20.4) | 8.4 (4; 22) | 13.2 (5; 26.9) | 8.2 (3.6; 17.4) | 9.8 (5; 14.1) | NA (NA; NA) |
| Delay between CD and GD | | 0.3 (0; 2.9) | 0.2 (0; 1.2) | 0.2 (0; 1.7) | 1.3 (0.1; 8.8) | 0.2 (0; 2.2) | 0.3 (0; 2.2) | 0.8 (0.1; 5.9) | 0.1 (0; 1.1) | 0.2 (0; 1.6) | 0.4 (0.1; 2.6) | 1 (0.2; 4.9) | NA (NA; NA) |
| Reason of GD | Clinical | 8,787 (88%) | 975 (87.7%) | 2,601 (90.8%) | 1,629 (89.2%) | 1,192 (82.2%) | 1,081 (90.6%) | 380 (85.4%) | 515 (88.6%) | 350 (77.8%) | 39 (92.9%) | 25 (96.2%) | 0 (0%) |
| Family | 975 (9.8%) | 77 (6.9%) | 153 (5.3%) | 170 (9.3%) | 245 (16.9%) | 100 (8.4%) | 63 (14.2%) | 65 (11.2%) | 99 (22%) | 3 (7.1%) | 0 (0%) | 0 (0%) | |
| Neonatal | 114 (1.1%) | 41 (3.7%) | 45 (1.6%) | 20 (1.1%) | 2 (0.1%) | 3 (0.3%) | 0 (0%) | 1 (0.2%) | 1 (0.2%) | 0 (0%) | 1 (3.8%) | 0 (0%) | |
| Prenatal | 112 (1.1%) | 19 (1.7%) | 64 (2.2%) | 7 (0.4%) | 11 (0.8%) | 9 (0.8%) | 2 (0.4%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | |
| Sequencing method of GD | Gene sequencing | 7,693 (83.3%) | 848 (80.1%) | 2,122 (82%) | 1,421 (83.5%) | 1,154 (85.3%) | 970 (87.7%) | 323 (77.5%) | 459 (85.5%) | 347 (84.6%) | 26 (70.3%) | 23 (95.8%) | 0 (0%) |
| Nongenetic definitive test | 441 (4.8%) | 35 (3.3%) | 284 (11%) | 11 (0.6%) | 12 (0.9%) | 59 (5.3%) | 3 (0.7%) | 0 (0%) | 36 (8.8%) | 1 (2.7%) | 0 (0%) | 0 (0%) | |
| Whole exome/genome sequencing | 1,100 (11.9%) | 176 (16.6%) | 183 (7.1%) | 270 (15.9%) | 187 (13.8%) | 77 (7%) | 91 (21.8%) | 78 (14.5%) | 27 (6.6%) | 10 (27%) | 1 (4.2%) | 0 (0%) | |
| Malignancy at any time | N | 18,176 (91.1%) | 1,578 (93.4%) | 2,491 (88.9%) | 8,759 (89.4%) | 1,595 (91.4%) | 1,609 (95.6%) | 569 (94.7%) | 604 (98.1%) | 632 (97.7%) | 66 (90.4%) | 16 (72.7%) | 257 (89.9%) |
| Y | 1,783 (8.9%) | 112 (6.6%) | 312 (11.1%) | 1,034 (10.6%) | 150 (8.6%) | 74 (4.4%) | 32 (5.3%) | 12 (1.9%) | 15 (2.3%) | 7 (9.6%) | 6 (27.3%) | 29 (10.1%) | |
| Covid-19 | N | 5,380 (70.3%) | 456 (81%) | 801 (76.1%) | 2,613 (64.1%) | 434 (74.2%) | 363 (81%) | 130 (77.4%) | 260 (74.9%) | 177 (76.3%) | 15 (78.9%) | 6 (75%) | 125 (79.6%) |
| Y | 2,273 (29.7%) | 107 (19%) | 251 (23.9%) | 1,461 (35.9%) | 151 (25.8%) | 85 (19%) | 38 (22.6%) | 87 (25.1%) | 55 (23.7%) | 4 (21.1%) | 2 (25%) | 32 (20.4%) | |
| Living status | Alive | 20,680 (67.5%) | 1,419 (56.1%) | 2,580 (60.9%) | 10,740 (71%) | 1,519 (70%) | 1,534 (60.2%) | 546 (66.3%) | 729 (70%) | 1,127 (76%) | 52 (61.2%) | 22 (73.3%) | 412 (74.4%) |
| Deceased | 3,216 (10.5%) | 615 (24.3%) | 676 (15.9%) | 1,117 (7.4%) | 356 (16.4%) | 269 (10.6%) | 87 (10.6%) | 23 (2.2%) | 18 (1.2%) | 22 (25.9%) | 3 (10%) | 30 (5.4%) | |
| Lost to follow-up | 6,732 (22%) | 497 (19.6%) | 983 (23.2%) | 3,266 (21.6%) | 296 (13.6%) | 745 (29.2%) | 190 (23.1%) | 290 (27.8%) | 337 (22.7%) | 11 (12.9%) | 5 (16.7%) | 112 (20.2%) | |
| Age at last follow-up/death | | 20.2 (9.4; 42.6) | 8.7 (2; 18.7) | 12.5 (6.3; 19.9) | 35.4 (16.9; 55.9) | 14.8 (6.5; 24.2) | 13.7 (5.8; 23.6) | 15 (7; 27.3) | 11.2 (6; 20.9) | 27.3 (13.6; 46.4) | 14.6 (6.3; 23.7) | 18.2 (12; 22.8) | 19 (8.4; 44.1) |
| Living status (stops at CT) | Alive at last follow-up | 24,222 (81.1%) | 928 (37.1%) | 3,144 (76.5%) | 13,522 (92%) | 1,313 (61%) | 1,680 (67%) | 695 (86.1%) | 956 (95.1%) | 1,463 (99.1%) | 41 (49.4%) | 25 (83.3%) | 455 (90.6%) |
| Deceased | 2,226 (7.5%) | 258 (10.3%) | 496 (12.1%) | 966 (6.6%) | 186 (8.6%) | 181 (7.2%) | 74 (9.2%) | 17 (1.7%) | 11 (0.7%) | 9 (10.8%) | 3 (10%) | 25 (5%) | |
| Curative therapy | 3,431 (11.5%) | 1,315 (52.6%) | 470 (11.4%) | 216 (1.5%) | 653 (30.3%) | 648 (25.8%) | 38 (4.7%) | 32 (3.2%) | 2 (0.1%) | 33 (39.8%) | 2 (6.7%) | 22 (4.4%) | |
| Age at last follow-up (stops at CT) | | 19.4 (8; 42.6) | 1.3 (0.5; 11) | 11.4 (5.2; 19.3) | 35.5 (16.8; 55.9) | 12.1 (3.2; 22.7) | 11.6 (4; 21.8) | 14.6 (6.6; 27) | 11.1 (5.9; 20.7) | 27.4 (13.6; 46.5) | 10 (5; 20.5) | 18.2 (11; 22.8) | 19 (7.8; 44.1) |
| Follow-up duration (years) | | 7.2 (2.6; 14) | 4.6 (0.8; 12) | 8 (2.9; 14) | 7.9 (3.4; 14.5) | 5.6 (1.7; 11.6) | 7.7 (2; 17.2) | 6.6 (1.7; 13.1) | 4 (1.6; 7.9) | 7.7 (2.1; 16.9) | 6.7 (3.4; 10.6) | 11.2 (5.2; 17.1) | 5.2 (1.5; 11) |
| Covariate . | Values . | Whole cohort . | CID (I) . | Syndromic (II) . | PAD (III) . | PIRD (IV) . | Phagocyte (V) . | Innate (VI) . | AIS (VII) . | Complement (VIII) . | BMF (IX) . | Phenocopies (X) . | other . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N = 30,628 . | N = 2,531 . | N = 4,239 . | N = 15,123 . | N = 2,171 . | N = 2,548 . | N = 823 . | N = 1,042 . | N = 1,482 . | N = 85 . | N = 30 . | N = 554 . | ||
| Gender | M | 16,767 (54.8%) | 1,470 (58.1%) | 2,473 (58.3%) | 7,782 (51.5%) | 1,329 (61.2%) | 1,693 (66.5%) | 387 (47%) | 575 (55.2%) | 681 (46%) | 57 (67.1%) | 19 (63.3%) | 301 (54.3%) |
| F | 13,855 (45.2%) | 1,061 (41.9%) | 1,766 (41.7%) | 7,337 (48.5%) | 841 (38.8%) | 854 (33.5%) | 436 (53%) | 467 (44.8%) | 801 (54%) | 28 (32.9%) | 11 (36.7%) | 253 (45.7%) | |
| Year of birth | | 1997 (1976; 2008) | 2007 (1997; 2014) | 2005 (1995; 2012) | 1984 (1963; 2001) | 2004 (1993; 2011) | 2002 (1991; 2010) | 2003 (1991; 2011) | 2008 (1999; 2013) | 1991 (1972; 2006) | 2004 (1987; 2011) | 2001.5 (1995; 2008.5) | 1998 (1974; 2007) |
| Familial case | N | 21,854 (76.6%) | 1,725 (72.9%) | 3,002 (74.1%) | 11,949 (85.4%) | 1,266 (61.1%) | 1,468 (65.4%) | 492 (62.2%) | 771 (76.6%) | 645 (46.5%) | 57 (75%) | 28 (93.3%) | 451 (87.7%) |
| Y | 6,681 (23.4%) | 641 (27.1%) | 1,047 (25.9%) | 2,049 (14.6%) | 805 (38.9%) | 778 (34.6%) | 299 (37.8%) | 236 (23.4%) | 742 (53.5%) | 19 (25%) | 2 (6.7%) | 63 (12.3%) | |
| Consanguinity | N | 24,731 (87.2%) | 1,426 (60.8%) | 3,247 (82.1%) | 13,381 (95.5%) | 1,602 (78.8%) | 1,699 (75.6%) | 589 (77.3%) | 920 (93.2%) | 1,303 (93.1%) | 66 (84.6%) | 28 (100%) | 470 (92.7%) |
| Y | 3,624 (12.8%) | 921 (39.2%) | 708 (17.9%) | 631 (4.5%) | 432 (21.2%) | 547 (24.4%) | 173 (22.7%) | 67 (6.8%) | 96 (6.9%) | 12 (15.4%) | 0 (0%) | 37 (7.3%) | |
| Age at onset of symptoms | | 3 (0.4; 14.1) | 0.3 (0; 1.6) | 0.5 (0; 2.2) | 8 (2; 30) | 2.2 (0.3; 7.5) | 0.7 (0.1; 3) | 1.2 (0.2; 3.8) | 2.8 (0.7; 5) | 8 (3; 18) | 3 (0.3; 8.1) | 2.8 (0.6; 4.9) | 3 (0.7; 15.4) |
| Immune dysregulation at onset | N | 21,482 (77.2%) | 1,712 (77.5%) | 3,242 (84.1%) | 11,175 (80.3%) | 616 (31.6%) | 1,944 (86.2%) | 632 (84.9%) | 536 (55%) | 1,182 (88.3%) | 49 (67.1%) | 4 (13.3%) | 390 (80.7%) |
| Y | 6,347 (22.8%) | 498 (22.5%) | 613 (15.9%) | 2,741 (19.7%) | 1,335 (68.4%) | 311 (13.8%) | 112 (15.1%) | 438 (45%) | 156 (11.7%) | 24 (32.9%) | 26 (86.7%) | 93 (19.3%) | |
| Infection at onset | N | 8,133 (28.9%) | 436 (19.6%) | 2,195 (56.6%) | 1,920 (13.6%) | 1,161 (59.6%) | 590 (26%) | 108 (14.4%) | 705 (72.5%) | 827 (61.5%) | 44 (60.3%) | 19 (67.9%) | 128 (26.3%) |
| Y | 19,961 (71.1%) | 1,786 (80.4%) | 1,680 (43.4%) | 12,202 (86.4%) | 787 (40.4%) | 1,681 (74%) | 643 (85.6%) | 267 (27.5%) | 518 (38.5%) | 29 (39.7%) | 9 (32.1%) | 359 (73.7%) | |
| Malignancy at onset | N | 27,294 (98.3%) | 2,180 (98.6%) | 3,766 (97.8%) | 13,620 (98.1%) | 1,885 (97.1%) | 2,235 (99.4%) | 741 (99.7%) | 969 (99.8%) | 1,333 (99.8%) | 69 (94.5%) | 25 (89.3%) | 471 (97.7%) |
| Y | 479 (1.7%) | 30 (1.4%) | 85 (2.2%) | 269 (1.9%) | 57 (2.9%) | 13 (0.6%) | 2 (0.3%) | 2 (0.2%) | 3 (0.2%) | 4 (5.5%) | 3 (10.7%) | 11 (2.3%) | |
| Syndromic manifestations at onset | N | 24,549 (88.3%) | 2,046 (92.6%) | 1,651 (42.7%) | 13,574 (97.7%) | 1,798 (92.5%) | 2,075 (92.3%) | 683 (91.8%) | 919 (94.6%) | 1,274 (95.4%) | 40 (54.8%) | 28 (100%) | 461 (95.4%) |
| Y | 3,253 (11.7%) | 164 (7.4%) | 2,220 (57.3%) | 320 (2.3%) | 145 (7.5%) | 174 (7.7%) | 61 (8.2%) | 52 (5.4%) | 62 (4.6%) | 33 (45.2%) | 0 (0%) | 22 (4.6%) | |
| Other onset | N | 24,466 (87.9%) | 1,992 (90.1%) | 3,298 (85.5%) | 12,947 (93.1%) | 1,782 (91.6%) | 2,086 (92.7%) | 685 (92.1%) | 545 (55.6%) | 647 (48.1%) | 59 (80.8%) | 28 (96.6%) | 397 (81.9%) |
| Y | 3,366 (12.1%) | 220 (9.9%) | 559 (14.5%) | 963 (6.9%) | 163 (8.4%) | 164 (7.3%) | 59 (7.9%) | 436 (44.4%) | 699 (51.9%) | 14 (19.2%) | 1 (3.4%) | 88 (18.1%) | |
| No clinical symptoms | N | 27,605 (94.1%) | 2,188 (91%) | 3,770 (92.5%) | 13,875 (95.9%) | 1,926 (91.5%) | 2,238 (92.3%) | 735 (91.9%) | 966 (97.2%) | 1,326 (91.2%) | 71 (91%) | 28 (100%) | 482 (97.6%) |
| Y | 1,725 (5.9%) | 217 (9%) | 306 (7.5%) | 595 (4.1%) | 180 (8.5%) | 187 (7.7%) | 65 (8.1%) | 28 (2.8%) | 128 (8.8%) | 7 (9%) | 0 (0%) | 12 (2.4%) | |
| Age at clinical diagnosis (CD) (years) | | 8.2 (2; 30.1) | 0.7 (0.3; 4.6) | 2.4 (0.4; 6.9) | 22 (6.2; 44) | 5.1 (1; 13) | 2 (0.5; 7) | 4.2 (1.1; 14) | 5 (2.7; 11.4) | 15 (5.2; 28.8) | 5 (1.3; 13.7) | 5.2 (3; 9.8) | 7.5 (2.3; 34.1) |
| Delay between onset and CD (years) | | 1.3 (0.1; 5.1) | 0.2 (0; 1.3) | 0.8 (0; 3.9) | 2.7 (0.7; 7.5) | 0.4 (0; 3.4) | 0.5 (0.1; 2.2) | 1 (0.1; 5.6) | 1.5 (0.5; 4) | 1.1 (0.1; 7) | 0.5 (0.1; 2.1) | 0.9 (0.3; 3.9) | 1.7 (0.3; 4.7) |
| Genetics | Mutation found | 12,774 (44.5%) | 1,470 (63.1%) | 3,647 (88.8%) | 2,251 (16%) | 1,671 (80.8%) | 1,693 (71.8%) | 529 (68.1%) | 662 (65.3%) | 772 (55.6%) | 49 (71%) | 30 (100%) | 0 (0%) |
| No mutation found | 2,852 (9.9%) | 319 (13.7%) | 79 (1.9%) | 1,850 (13.1%) | 195 (9.4%) | 106 (4.5%) | 81 (10.4%) | 71 (7%) | 27 (1.9%) | 9 (13%) | 0 (0%) | 115 (24.7%) | |
| Not tested | 11,956 (41.7%) | 403 (17.3%) | 325 (7.9%) | 9,398 (66.8%) | 125 (6%) | 478 (20.3%) | 97 (12.5%) | 250 (24.7%) | 569 (41%) | 8 (11.6%) | 0 (0%) | 303 (65%) | |
| Pending | 1,097 (3.8%) | 136 (5.8%) | 57 (1.4%) | 576 (4.1%) | 76 (3.7%) | 80 (3.4%) | 70 (9%) | 31 (3.1%) | 20 (1.4%) | 3 (4.3%) | 0 (0%) | 48 (10.3%) | |
| Age at genetic diagnosis (GD) | | 5.5 (1.1; 15) | 0.9 (0.3; 6.7) | 3.2 (0.4; 9.7) | 9.4 (2.9; 25) | 8.3 (1.8; 17.3) | 4.4 (1.1; 12.7) | 10 (3.2; 20.4) | 8.4 (4; 22) | 13.2 (5; 26.9) | 8.2 (3.6; 17.4) | 9.8 (5; 14.1) | NA (NA; NA) |
| Delay between CD and GD | | 0.3 (0; 2.9) | 0.2 (0; 1.2) | 0.2 (0; 1.7) | 1.3 (0.1; 8.8) | 0.2 (0; 2.2) | 0.3 (0; 2.2) | 0.8 (0.1; 5.9) | 0.1 (0; 1.1) | 0.2 (0; 1.6) | 0.4 (0.1; 2.6) | 1 (0.2; 4.9) | NA (NA; NA) |
| Reason of GD | Clinical | 8,787 (88%) | 975 (87.7%) | 2,601 (90.8%) | 1,629 (89.2%) | 1,192 (82.2%) | 1,081 (90.6%) | 380 (85.4%) | 515 (88.6%) | 350 (77.8%) | 39 (92.9%) | 25 (96.2%) | 0 (0%) |
| Family | 975 (9.8%) | 77 (6.9%) | 153 (5.3%) | 170 (9.3%) | 245 (16.9%) | 100 (8.4%) | 63 (14.2%) | 65 (11.2%) | 99 (22%) | 3 (7.1%) | 0 (0%) | 0 (0%) | |
| Neonatal | 114 (1.1%) | 41 (3.7%) | 45 (1.6%) | 20 (1.1%) | 2 (0.1%) | 3 (0.3%) | 0 (0%) | 1 (0.2%) | 1 (0.2%) | 0 (0%) | 1 (3.8%) | 0 (0%) | |
| Prenatal | 112 (1.1%) | 19 (1.7%) | 64 (2.2%) | 7 (0.4%) | 11 (0.8%) | 9 (0.8%) | 2 (0.4%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | |
| Sequencing method of GD | Gene sequencing | 7,693 (83.3%) | 848 (80.1%) | 2,122 (82%) | 1,421 (83.5%) | 1,154 (85.3%) | 970 (87.7%) | 323 (77.5%) | 459 (85.5%) | 347 (84.6%) | 26 (70.3%) | 23 (95.8%) | 0 (0%) |
| Nongenetic definitive test | 441 (4.8%) | 35 (3.3%) | 284 (11%) | 11 (0.6%) | 12 (0.9%) | 59 (5.3%) | 3 (0.7%) | 0 (0%) | 36 (8.8%) | 1 (2.7%) | 0 (0%) | 0 (0%) | |
| Whole exome/genome sequencing | 1,100 (11.9%) | 176 (16.6%) | 183 (7.1%) | 270 (15.9%) | 187 (13.8%) | 77 (7%) | 91 (21.8%) | 78 (14.5%) | 27 (6.6%) | 10 (27%) | 1 (4.2%) | 0 (0%) | |
| Malignancy at any time | N | 18,176 (91.1%) | 1,578 (93.4%) | 2,491 (88.9%) | 8,759 (89.4%) | 1,595 (91.4%) | 1,609 (95.6%) | 569 (94.7%) | 604 (98.1%) | 632 (97.7%) | 66 (90.4%) | 16 (72.7%) | 257 (89.9%) |
| Y | 1,783 (8.9%) | 112 (6.6%) | 312 (11.1%) | 1,034 (10.6%) | 150 (8.6%) | 74 (4.4%) | 32 (5.3%) | 12 (1.9%) | 15 (2.3%) | 7 (9.6%) | 6 (27.3%) | 29 (10.1%) | |
| Covid-19 | N | 5,380 (70.3%) | 456 (81%) | 801 (76.1%) | 2,613 (64.1%) | 434 (74.2%) | 363 (81%) | 130 (77.4%) | 260 (74.9%) | 177 (76.3%) | 15 (78.9%) | 6 (75%) | 125 (79.6%) |
| Y | 2,273 (29.7%) | 107 (19%) | 251 (23.9%) | 1,461 (35.9%) | 151 (25.8%) | 85 (19%) | 38 (22.6%) | 87 (25.1%) | 55 (23.7%) | 4 (21.1%) | 2 (25%) | 32 (20.4%) | |
| Living status | Alive | 20,680 (67.5%) | 1,419 (56.1%) | 2,580 (60.9%) | 10,740 (71%) | 1,519 (70%) | 1,534 (60.2%) | 546 (66.3%) | 729 (70%) | 1,127 (76%) | 52 (61.2%) | 22 (73.3%) | 412 (74.4%) |
| Deceased | 3,216 (10.5%) | 615 (24.3%) | 676 (15.9%) | 1,117 (7.4%) | 356 (16.4%) | 269 (10.6%) | 87 (10.6%) | 23 (2.2%) | 18 (1.2%) | 22 (25.9%) | 3 (10%) | 30 (5.4%) | |
| Lost to follow-up | 6,732 (22%) | 497 (19.6%) | 983 (23.2%) | 3,266 (21.6%) | 296 (13.6%) | 745 (29.2%) | 190 (23.1%) | 290 (27.8%) | 337 (22.7%) | 11 (12.9%) | 5 (16.7%) | 112 (20.2%) | |
| Age at last follow-up/death | | 20.2 (9.4; 42.6) | 8.7 (2; 18.7) | 12.5 (6.3; 19.9) | 35.4 (16.9; 55.9) | 14.8 (6.5; 24.2) | 13.7 (5.8; 23.6) | 15 (7; 27.3) | 11.2 (6; 20.9) | 27.3 (13.6; 46.4) | 14.6 (6.3; 23.7) | 18.2 (12; 22.8) | 19 (8.4; 44.1) |
| Living status (stops at CT) | Alive at last follow-up | 24,222 (81.1%) | 928 (37.1%) | 3,144 (76.5%) | 13,522 (92%) | 1,313 (61%) | 1,680 (67%) | 695 (86.1%) | 956 (95.1%) | 1,463 (99.1%) | 41 (49.4%) | 25 (83.3%) | 455 (90.6%) |
| Deceased | 2,226 (7.5%) | 258 (10.3%) | 496 (12.1%) | 966 (6.6%) | 186 (8.6%) | 181 (7.2%) | 74 (9.2%) | 17 (1.7%) | 11 (0.7%) | 9 (10.8%) | 3 (10%) | 25 (5%) | |
| Curative therapy | 3,431 (11.5%) | 1,315 (52.6%) | 470 (11.4%) | 216 (1.5%) | 653 (30.3%) | 648 (25.8%) | 38 (4.7%) | 32 (3.2%) | 2 (0.1%) | 33 (39.8%) | 2 (6.7%) | 22 (4.4%) | |
| Age at last follow-up (stops at CT) | | 19.4 (8; 42.6) | 1.3 (0.5; 11) | 11.4 (5.2; 19.3) | 35.5 (16.8; 55.9) | 12.1 (3.2; 22.7) | 11.6 (4; 21.8) | 14.6 (6.6; 27) | 11.1 (5.9; 20.7) | 27.4 (13.6; 46.5) | 10 (5; 20.5) | 18.2 (11; 22.8) | 19 (7.8; 44.1) |
| Follow-up duration (years) | | 7.2 (2.6; 14) | 4.6 (0.8; 12) | 8 (2.9; 14) | 7.9 (3.4; 14.5) | 5.6 (1.7; 11.6) | 7.7 (2; 17.2) | 6.6 (1.7; 13.1) | 4 (1.6; 7.9) | 7.7 (2.1; 16.9) | 6.7 (3.4; 10.6) | 11.2 (5.2; 17.1) | 5.2 (1.5; 11) |
Quantitative covariates: median (Q1; Q3); qualitative covariates: effective (percentage); the order of subgroups from left to right follows the IEI categories I–X of the 2022 IUIS classification available on the end date chosen for inclusion; values Y for “yes/present” for real positive values, N for “no” is shown to reflect the size of the correct comparison group, excluding “unknown” replies; percentages represent the fraction of patients with available information, not of the entire cohort; ages and diagnostic delay periods in years; diagnosis via NBS is recorded as subcategory of “no clinical symptoms/lab abnormalities only,” where not all choices of the submenu are shown; examples of “nongenetic definitive tests” are FISH, MLPA, or CGH arrays. AIS, autoinflammatory syndromes; MLPA, multiplex ligand-dependent probe amplification; CGH, comparative genomic hybridization; CT, curative/definitive therapy.