US cohort
| Genes found . | Gene name . | Inheritance . | No. . |
|---|---|---|---|
| TACI/TNFRSF13B | Transmembrane activator and CAML interactor | AD | 27 |
| NFKB1 | Nuclear factor κ B subunit 1 | AD | 13 |
| CTLA4 | Cytotoxic T-lymphocyte associated protein 4 | AD | 4 |
| KMT2D | Lysine methyltransferase 2 | AD | 4 |
| IKZF1 | IKAROS family zinc finger 1 | AD | 3 |
| PIK3CD | Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit Δ | AD | 3 |
| STAT3 | Signal transducer and activator of transcription 3 | AD-GOF | 3 |
| LRBA | Lipopolysaccharide-responsive beige-like anchor protein | AR–Comp Het | 2 |
| PIK3R1 | Phosphoinositide-3-kinase regulatory subunit 1 | AR–Comp Het or AD | 2 |
| TCF3 | Transcription factor 3 | AD | 2 |
| CXCR4 | C-X-C motif chemokine receptor 4 | AD | 2 |
| NFKB2 | Nuclear factor κ B subunit 2 | AD | 1 |
| CARD11 | Caspase recruitment domain family member | AD | 1 |
| RAG1/RAG2 | Recombination activating ½ | AR–Comp Het | 1 |
| BACH2 | BTB domain and CNC homolog 2 | AD | 1 |
| LIG4 | DNA ligase 4 | AR-Hom | 1 |
| STXBP2 | Syntaxin-binding protein 2 | AR-Comp Het | 1 |
| CD40L | CD40 ligand | XL | 1 |
| LIG1 | DNA ligase 1 | AR–Comp Het | 1 |
| RTEL1 | Regulator of telomere elongation helicase 1 | AR–Comp Het | 1 |
| Genes found . | Gene name . | Inheritance . | No. . |
|---|---|---|---|
| TACI/TNFRSF13B | Transmembrane activator and CAML interactor | AD | 27 |
| NFKB1 | Nuclear factor κ B subunit 1 | AD | 13 |
| CTLA4 | Cytotoxic T-lymphocyte associated protein 4 | AD | 4 |
| KMT2D | Lysine methyltransferase 2 | AD | 4 |
| IKZF1 | IKAROS family zinc finger 1 | AD | 3 |
| PIK3CD | Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit Δ | AD | 3 |
| STAT3 | Signal transducer and activator of transcription 3 | AD-GOF | 3 |
| LRBA | Lipopolysaccharide-responsive beige-like anchor protein | AR–Comp Het | 2 |
| PIK3R1 | Phosphoinositide-3-kinase regulatory subunit 1 | AR–Comp Het or AD | 2 |
| TCF3 | Transcription factor 3 | AD | 2 |
| CXCR4 | C-X-C motif chemokine receptor 4 | AD | 2 |
| NFKB2 | Nuclear factor κ B subunit 2 | AD | 1 |
| CARD11 | Caspase recruitment domain family member | AD | 1 |
| RAG1/RAG2 | Recombination activating ½ | AR–Comp Het | 1 |
| BACH2 | BTB domain and CNC homolog 2 | AD | 1 |
| LIG4 | DNA ligase 4 | AR-Hom | 1 |
| STXBP2 | Syntaxin-binding protein 2 | AR-Comp Het | 1 |
| CD40L | CD40 ligand | XL | 1 |
| LIG1 | DNA ligase 1 | AR–Comp Het | 1 |
| RTEL1 | Regulator of telomere elongation helicase 1 | AR–Comp Het | 1 |
N = 235 (74 subjects with mutations; 31%). Five other subjects, not included here, had TNFRSF13B mutations in addition to another gene listed here. The mutations considered deleterious include: p.Ala181Glu; p.Cys104Arg, p.Cys172Tyr; p.Leu171Arg; p.Lys188Met; p.Ser194X; and p.Tyr164X.
Comp Het, compound heterogygous; GOF, gain-of-function; Hom, homogygous.