Swedish cohort
| Potential gene . | Gene name . | Inheritance . | No. . |
|---|---|---|---|
| LRBA | Lipopolysaccharide-responsive beige-like anchor protein | AR–Comp Het | 5 |
| TACI/TNFRSF13B | Transmembrane activator and CAML interactor | AD | 5 |
| FOXP3 | Forkhead box P3 | XL | 4 |
| PMS2 | MS1 homolog 2, mismatch repair system component | AR-Hom | 3 |
| BTK | Bruton tyrosine kinase | XL | 2 |
| DOCK8 | Dedicator of cytokinesis 8 | AR–Comp Het | 2 |
| RAG1/2 | Recombination activating 1/2 | AR-Het | 2 |
| TINF2 | TERF1-interacting nuclear factor 2 | AD | 2 |
| UNC93B1 | Unc-93 homolog B1, Toll-like receptor–signaling regulator | AR–Comp Het | 2 |
| BAFFR/TNFRSF13C | Tumor necrosis factor superfamily member 13b receptor | AR–Comp Het | 1 |
| CARD11 | Caspase recruitment domain family member | AD | 1 |
| CD19 | CD19 molecule | AR–Comp Het | 1 |
| Chr15 del | Deletion of chromosome 15q24.1-q24.3 | Het large del | 1 |
| DNMT3B | DNA methyltransferase 3 β | AR-Hom | 1 |
| IKBKG | Inhibitor of nuclear factor κ B kinase regulatory subunit γ | XL | 1 |
| IKZF1 | IKAROS family zinc finger 1 | AD | 1 |
| IL12RB2 | Interleukin 12 receptor subunit β 2 | AR | 1 |
| IL2RG | Interleukin 2 receptor subunit γ | XL | 1 |
| ITK | Interleukin 2–inducible T-cell kinase | AR–Comp Het | 1 |
| KMT2D | Lysine methyltransferase 2 | AD | 1 |
| NFKB1 | Nuclear factor κ B subunit 1 | AD | 1 |
| NFKB2 | Nuclear factor κ B subunit 2 | AD | 1 |
| PTPRC | Protein tyrosine phosphatase receptor type C | AR | 1 |
| RFX5 | Regulatory factor ×5 | AR–Comp Het | 1 |
| SH2D1A | Src homology 2 domain containing 1A | XL | 1 |
| SPINK5 | Serine peptidase inhibitor, Kazal type 5 | AR–Comp Het | 1 |
| THBD | Thrombomodulin | AD ? | 1 |
| WAS | WASP actin nucleation promoting factor | XL | 1 |
| Potential gene . | Gene name . | Inheritance . | No. . |
|---|---|---|---|
| LRBA | Lipopolysaccharide-responsive beige-like anchor protein | AR–Comp Het | 5 |
| TACI/TNFRSF13B | Transmembrane activator and CAML interactor | AD | 5 |
| FOXP3 | Forkhead box P3 | XL | 4 |
| PMS2 | MS1 homolog 2, mismatch repair system component | AR-Hom | 3 |
| BTK | Bruton tyrosine kinase | XL | 2 |
| DOCK8 | Dedicator of cytokinesis 8 | AR–Comp Het | 2 |
| RAG1/2 | Recombination activating 1/2 | AR-Het | 2 |
| TINF2 | TERF1-interacting nuclear factor 2 | AD | 2 |
| UNC93B1 | Unc-93 homolog B1, Toll-like receptor–signaling regulator | AR–Comp Het | 2 |
| BAFFR/TNFRSF13C | Tumor necrosis factor superfamily member 13b receptor | AR–Comp Het | 1 |
| CARD11 | Caspase recruitment domain family member | AD | 1 |
| CD19 | CD19 molecule | AR–Comp Het | 1 |
| Chr15 del | Deletion of chromosome 15q24.1-q24.3 | Het large del | 1 |
| DNMT3B | DNA methyltransferase 3 β | AR-Hom | 1 |
| IKBKG | Inhibitor of nuclear factor κ B kinase regulatory subunit γ | XL | 1 |
| IKZF1 | IKAROS family zinc finger 1 | AD | 1 |
| IL12RB2 | Interleukin 12 receptor subunit β 2 | AR | 1 |
| IL2RG | Interleukin 2 receptor subunit γ | XL | 1 |
| ITK | Interleukin 2–inducible T-cell kinase | AR–Comp Het | 1 |
| KMT2D | Lysine methyltransferase 2 | AD | 1 |
| NFKB1 | Nuclear factor κ B subunit 1 | AD | 1 |
| NFKB2 | Nuclear factor κ B subunit 2 | AD | 1 |
| PTPRC | Protein tyrosine phosphatase receptor type C | AR | 1 |
| RFX5 | Regulatory factor ×5 | AR–Comp Het | 1 |
| SH2D1A | Src homology 2 domain containing 1A | XL | 1 |
| SPINK5 | Serine peptidase inhibitor, Kazal type 5 | AR–Comp Het | 1 |
| THBD | Thrombomodulin | AD ? | 1 |
| WAS | WASP actin nucleation promoting factor | XL | 1 |
N = 128; 46 subjects with mutations (36%).
Het, heterozygous; Het large del, heterozygous large deletion.