Table 6.
Genes and medical complications
| Case no.* | Potential gene causes | Infection only | Lymphocytic/ granulomatous infiltrates | Enteropathy | Autoimmunity |
|---|---|---|---|---|---|
| NY275 | PI3KCD | x | x | ||
| NY100 | PI3KCD | x | x | ||
| NY615 | PI3KCD | x | |||
| EX142 | BTK | x | |||
| EX149 | BTK | x | |||
| EX32 | CARD11 | x | |||
| NY504 | CARD11 | x | |||
| NY204 | CARD11 | x | |||
| NY549 | CTLA4 | x | x | ||
| NY263 | CTLA4 | x | x | ||
| NY682 | CTLA4 | x | |||
| NY528 | CTLA4 | x | x | x | |
| NY649 | CXCR4 | x | |||
| NY650 | CXCR4 | x | x | ||
| EX613 | DOCK8 | x | x | ||
| EX553 | DOCK8 | x | |||
| EX546 | FOXP3 | x | |||
| EX583 | FOXP3 | x | |||
| EX587 | FOXP3 | ||||
| EX590 | FOXP3 | x | |||
| NYEX9 | IKZF1 | x | |||
| NY182 | IKZF1 | x | |||
| NY546 | IKZF1 | x | |||
| NY657 | IKZF1 | x | |||
| NY52 | KMT2D | x | |||
| EX409 | KMT2D | x | |||
| NY249 | KMT2D | x | |||
| NY19 | KMT2D | x | x | ||
| NY554 | KMT2D | x | x | ||
| EX19 | LRBA | x | |||
| EX611 | LRBA | x | x | ||
| EX623 | LRBA | x | |||
| EX618 | LRBA | x | |||
| EX145 | LRBA | x | x | ||
| NY131 | LRBA | x | x | ||
| NY248 | LRBA | x | x | ||
| NY711 | NFKB1 | x | |||
| NY630 | NFKB1 | x | |||
| NY299 | NFKB1 | x | |||
| EX297 | NFKB1 | x | |||
| NY370 | NFKB1 | x | |||
| NY688 | NFKB1 | x | |||
| NY490 | NFKB1 | x | x | x | |
| NY490A | NFKB1 | x | |||
| NY643 | NFKB1 | x | x | x | |
| NY584 | NFKB1 | x | x | x | |
| NY334 | NKFB1 | x | x | ||
| NY203 | NKFB1 | x | x | x | |
| NY272 | NKFB1 | x | |||
| NY378 | NFKB2 | x | |||
| NY736 | PIK3R1 | x | |||
| NY175 | PIK3R1 | x | |||
| EX631 | PMS2 | x | |||
| EX602 | PMS2 | x | |||
| EX619 | PMS2 | x | |||
| EX582 | PTPRC | x | x | ||
| EX589 | RAG1/2 | x | |||
| EX595 | RAG1/2 | x | |||
| NY734 | RAG1/2 | x | |||
| NY543 | STAT3 | x | x | x | |
| NY110 | STAT3 | x | x | ||
| NY465 | STAT3 | x | x | x | |
| NY676 | TACI | x | |||
| NY500 | TACI | x | |||
| EX565 | TACI | x | |||
| EX543 | TACI | x | x | ||
| EX550 | TACI | x | |||
| EX600 | TACI | x | |||
| EX637 | TACI | x | |||
| NY434 | TACI | x | |||
| NY344 | TACI | x | x | ||
| NY709 | TACI | x | |||
| NY324 | TACI | x | |||
| NY353 | TACI | x | |||
| NY724 | TACI | x | |||
| NY251 | TACI | x | |||
| NY479 | TACI | x | |||
| NY725 | TACI | x | |||
| NY710 | TACI | x | |||
| NY668 | TACI | x | |||
| NY78 | TACI | x | |||
| NY477 | TACI | x | x | x | |
| NY401 | TACI | x | |||
| NY220 | TACI | x | |||
| NY703 | TACI | x | |||
| NY574 | TACI | x | |||
| NY155 | TACI | x | x | ||
| NY120 | TACI | x | x | ||
| NY594 | TACI | x | x | ||
| NY586 | TACI | x | x | ||
| NY550 | TACI | x | x | ||
| NY242 | TACI | x | x | ||
| NY81 | TACI | x | x | ||
| NY317 | TACI | x | |||
| NY165 | TACI | x | |||
| NY616 | TCF3 | x | |||
| NY550 | TCF3 | x | x | ||
| EX601 | TINF2 | x | |||
| EX624 | TINF2 | x | |||
| EX562 | UNC93B1 | x | x | ||
| EX635 | UNC93B1 | x | |||
| EX630 | WAS | x |
*
Case numbers: NY case numbers are the US cohort; EX case numbers are the Swedish cohort.