Table 5.
Number of patients with targeted gene SS performed, and number of patients with mutations identified.
| IEI genes | Patients with targeted gene SS | Patients with mutations identified | % |
|---|---|---|---|
| NCF2 | 10 | 7 | 70.0 |
| ITGB2 | 13 | 9 | 69.2 |
| NOD2 | 4 | 2 | 50.0 |
| RFXANK | 2 | 1 | 50.0 |
| TTC7A | 2 | 1 | 50.0 |
| FOXP3 | 6 | 2 | 33.3 |
| ADA | 3 | 1 | 33.3 |
| AK2 | 3 | 1 | 33.3 |
| PIK3CD | 7 | 2 | 28.6 |
| DOCK8 | 8 | 2 | 25.0 |
| IKBKG | 4 | 1 | 25.0 |
| STAT3 | 62 | 15 | 24.2 |
| JAK3 | 22 | 5 | 22.7 |
| IL10RA | 14 | 3 | 21.4 |
| IL12RB1 | 64 | 13 | 20.3 |
| AIRE | 10 | 2 | 20.0 |
| NLRP3 | 16 | 3 | 18.8 |
| IL7R | 22 | 4 | 18.2 |
| CYBA | 56 | 10 | 17.9 |
| ELANE | 40 | 6 | 15.0 |
| RAG2 | 78 | 10 | 12.8 |
| RAG1 | 82 | 10 | 12.2 |
| STAT1 | 53 | 6 | 11.3 |
| SH2D1A | 46 | 5 | 10.9 |
| TNFRSF13B | 13 | 1 | 7.7 |
| DCLRE1C | 55 | 4 | 7.3 |
| IFNGR1 | 51 | 3 | 5.9 |
| XIAP | 21 | 1 | 4.8 |
| FASLG | 21 | 1 | 4.8 |
| PRF1 | 32 | 1 | 3.1 |
| IL12B | 55 | 1 | 1.8 |
| FAS | 20 | 0 | 0.0 |
| UNC13D | 16 | 0 | 0.0 |
| ICOS | 16 | 0 | 0.0 |
| AICDA | 13 | 0 | 0.0 |
| CASP10 | 12 | 0 | 0.0 |
| MVK | 10 | 0 | 0.0 |
| CD40 | 10 | 0 | 0.0 |
| UNG | 10 | 0 | 0.0 |
| IL10RB | 9 | 0 | 0.0 |
| RAB27A | 9 | 0 | 0.0 |
| NLRP12 | 7 | 0 | 0.0 |
| CD79A | 7 | 0 | 0.0 |
| HAX1 | 7 | 0 | 0.0 |
| TNFRSF1A | 7 | 0 | 0.0 |
| TYK2 | 7 | 0 | 0.0 |
| LIG4 | 6 | 0 | 0.0 |
| CARD9 | 6 | 0 | 0.0 |
| RASGRP1 | 6 | 0 | 0.0 |
| ZAP70 | 6 | 0 | 0.0 |
| IL10 | 5 | 0 | 0.0 |
| IL24 | 5 | 0 | 0.0 |
| IRAK4 | 5 | 0 | 0.0 |
| CD19 | 4 | 0 | 0.0 |
| NCF4 | 4 | 0 | 0.0 |
| PNP | 3 | 0 | 0.0 |
| IFNGR2 | 3 | 0 | 0.0 |
| CLEC7A | 3 | 0 | 0.0 |
| MYD88 | 3 | 0 | 0.0 |
| PRKCD | 3 | 0 | 0.0 |
| MAGT1 | 2 | 0 | 0.0 |
| IL12A | 2 | 0 | 0.0 |
| ITK | 2 | 0 | 0.0 |
| STAT5B | 2 | 0 | 0.0 |
| STK4 | 2 | 0 | 0.0 |
| TCF3 | 1 | 0 | 0.0 |
| IL2RA | 1 | 0 | 0.0 |
| CXCR4 | 1 | 0 | 0.0 |
| LRBA | 1 | 0 | 0.0 |
| TCIRG1 | 1 | 0 | 0.0 |
| CLCN7 | 1 | 0 | 0.0 |
| FERMT3 | 1 | 0 | 0.0 |
| GATA2 | 1 | 0 | 0.0 |
| IL1RN | 1 | 0 | 0.0 |
| IL36RN | 1 | 0 | 0.0 |
| IRF8 | 1 | 0 | 0.0 |
| LAT | 1 | 0 | 0.0 |
| PGM3 | 1 | 0 | 0.0 |
| PSMB8 | 1 | 0 | 0.0 |
| Total | 1121 | 133 | 11.9 |
Official gene symbols approved by HGNC were used. Approved full gene names are available in HGNC. IEI, inborn errors of immunity; SS, Sanger sequencing; HGNC, HUGO Gene Nomenclature Committee. Sum of patients are in bold.