Results of genetic testing in the study group (80 patients with pES)
| Gene (no. of patients) . | Mutation type and consequences . |
|---|---|
| Pathogenic mutations, n = 32, 40% | |
| TNFRSF6 (6) | Heterozygous/LOF |
| CTLA4 (8) | Heterozygous/LOF |
| STAT3 (6) | Heterozygous/GOF |
| PIK3CD (1) | Hetezozygous/GOF |
| CBL (1) | Heterozygous/LOF |
| ADAR1 (1) | Heterozygous/LOF |
| LRBA (4) | Homozygous/LOF |
| RAG 1 (2) | Compound heterozygous/LOF |
| TNFRSF6 somatic (1) | Heterozygous/LOF |
| KRAS somatic (2) | Heterozygous/GOF |
| Probably pathogenic mutations, n = 20, 25% | |
| Immune cell receptors | |
| IFNAR1 (1) | Homozygous/likely LOF |
| TNFR2 (1) | Heterozygous/likely GOF |
| TGFBR2 (1) | Heterozygous/likely LOF |
| Intracellular signaling | |
| JAK1 (2) | Heterozygous/likely GOF |
| JAK2 (1) | Heterozygous/likely GOF |
| PLCG2 (1) | Heterozygous/likely GOF |
| TRAF3 (1) | Heterozygous/likely GOF |
| CARD11 (1) | Heterozygous/likely GOF |
| ARHGEF4 (1) | Heterozygous/likely GOF |
| PTPN11 (1) | Heterozygous/likely GOF |
| PARP4 (1) | Compound heterozygous/likely LOF |
| Apoptosis regulation | |
| RIPK2 (2) | Heterozygous/likely LOF |
| APAF1 (1) | Heterozygous/likely GOF |
| Transcription factors | |
| IKZF1 (2) | Heterozygous/likely GOF |
| NFATC1 (2) | Heterozygous/likely GOF |
| IKZF2 (1) | Heterozygous/likely LOF |
| No genetic abnormalities, n = 28, 35% |
| Gene (no. of patients) . | Mutation type and consequences . |
|---|---|
| Pathogenic mutations, n = 32, 40% | |
| TNFRSF6 (6) | Heterozygous/LOF |
| CTLA4 (8) | Heterozygous/LOF |
| STAT3 (6) | Heterozygous/GOF |
| PIK3CD (1) | Hetezozygous/GOF |
| CBL (1) | Heterozygous/LOF |
| ADAR1 (1) | Heterozygous/LOF |
| LRBA (4) | Homozygous/LOF |
| RAG 1 (2) | Compound heterozygous/LOF |
| TNFRSF6 somatic (1) | Heterozygous/LOF |
| KRAS somatic (2) | Heterozygous/GOF |
| Probably pathogenic mutations, n = 20, 25% | |
| Immune cell receptors | |
| IFNAR1 (1) | Homozygous/likely LOF |
| TNFR2 (1) | Heterozygous/likely GOF |
| TGFBR2 (1) | Heterozygous/likely LOF |
| Intracellular signaling | |
| JAK1 (2) | Heterozygous/likely GOF |
| JAK2 (1) | Heterozygous/likely GOF |
| PLCG2 (1) | Heterozygous/likely GOF |
| TRAF3 (1) | Heterozygous/likely GOF |
| CARD11 (1) | Heterozygous/likely GOF |
| ARHGEF4 (1) | Heterozygous/likely GOF |
| PTPN11 (1) | Heterozygous/likely GOF |
| PARP4 (1) | Compound heterozygous/likely LOF |
| Apoptosis regulation | |
| RIPK2 (2) | Heterozygous/likely LOF |
| APAF1 (1) | Heterozygous/likely GOF |
| Transcription factors | |
| IKZF1 (2) | Heterozygous/likely GOF |
| NFATC1 (2) | Heterozygous/likely GOF |
| IKZF2 (1) | Heterozygous/likely LOF |
| No genetic abnormalities, n = 28, 35% |
GOF, gain of function; LOF, loss of function.