Iranian cohort
| Potential gene . | Gene name . | Inheritance . | No. . |
|---|---|---|---|
| LRBA | Lipopolysaccharide-responsive beige-like anchor protein | AR-Hom | 15 |
| DNMT3B | DNA methyltransferase 3 β | AR-Hom | 8 |
| BTK | Bruton tyrosine kinase | XL | 5 |
| ZBTB24 | Zinc finger and BTB domain containing 24 | AR-Hom | 5 |
| IL12RB1 | Interleukin 12 receptor subunit β 1 | AR-Hom | 4 |
| TACI/TNFRSF13B | Transmembrane activator and CAML interactor | AD | 4 |
| CD27 | CD27 molecule | AR-Hom | 3 |
| PIK3R1 | Phosphoinositide-3-kinase regulatory subunit 1 | AD | 3 |
| PMS2 | MS1 homolog 2, mismatch repair system component | AR-Hom | 3 |
| RAC2 | Rac family small GTPase 2 | AR-Hom | 3 |
| RAG1 | Recombination activating 1 | AR-Hom | 3 |
| AIRE | Autoimmune regulator | AR-Hom | 2 |
| BAFFR/TNFRSF13C | Tumor necrosis factor receptor superfamily member 13C | AR-Hom | 2 |
| BLNK | B-cell linker | AR-Hom | 2 |
| CD70 | CD70 molecule | AR-Hom | 2 |
| DCK1 | Dyskerin | XL | 2 |
| DCLRE1C | DNA cross-link repair 1C | AR-Hom | 2 |
| FOXP3 | Forkhead box P3 | XL | 2 |
| ICOS | Inducible T cell costimulator | AR-Hom | 2 |
| IGHM | Immunoglobulin heavy constant μ | AR-Hom | 2 |
| IL12RB2 | Interleukin 12 receptor subunit β 2 | AR-Hom | 2 |
| NFKB1 | Nuclear factor κ B subunit 1 | AD | 2 |
| PI3KR1 | Phosphoinositide-3-kinase regulatory subunit 1 | AD | 2 |
| PIK3CD | Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit Δ | AD | 2 |
| RFXANK | Regulatory factor X-associated ankyrin-containing protein | AR | 2 |
| XIAP | X-linked inhibitor of apoptosis | XL | 2 |
| AIDCA | Activation-induced cytidine deaminase | AR-Hom | 1 |
| CD19 | CD19 molecule | AR-Hom | 1 |
| DOCK8 | Dedicator of cytokinesis 8 | AR-Hom | 1 |
| IKBKB | Inhibitor of nuclear factor κ B kinase subunit Bet | AR-Hom | 1 |
| IKZF1 | IKAROS family zinc finger 1 | AD | 1 |
| IL12B | Interleukin 12B | AR-Hom | 1 |
| IL21R | Interleukin 21 receptor | AR-Hom | 1 |
| ITCH | Itchy E3 ubiquitin protein ligase | AR-Hom | 1 |
| JAK3 | Janus kinase 3 | AR-Hom | 1 |
| KMT2D | Lysine methyltransferase 2D | AD | 1 |
| LIG4 | DNA ligase 4 | AR-Hom | 1 |
| MAGT1 | Magnesium transporter 1 | XL | 1 |
| MKD | Mevalonate kinase | AR-Hom | 1 |
| NEHJ1 | Nonhomologous end joining factor 1 | AR-Hom | 1 |
| NFKB2 | Nuclear factor κ B subunit 2 | AD | 1 |
| PGM3 | Phosphoglucomutase 3 | AR-Hom | 1 |
| PLCG2 | Phospholipase C γ 2 | AR-Hom | 1 |
| PNP | Purine nucleoside phosphorylase | AR-Hom | 1 |
| PRKDC | Protein kinase, DNA-activated, catalytic subunit | AR-Hom | 1 |
| PSTPIP1 | Proline-serine-threonine phosphatase interacting protein 1 | AR-Hom | 1 |
| RFX5 | Regulatory factor ×5 | AR-Hom | 1 |
| STAT2 | Signal transducer and activator of transcription 2 | AR-Hom | 1 |
| TERT | Telomerase reverse transcriptase | AR-Hom | 1 |
| TTC7A | Tetratricopeptide repeat domain 7A | AR-Hom | 1 |
| ZAP70 | ζ chain of T-cell receptor-associated protein kinase 70 | AR-Hom | 1 |
| Potential gene . | Gene name . | Inheritance . | No. . |
|---|---|---|---|
| LRBA | Lipopolysaccharide-responsive beige-like anchor protein | AR-Hom | 15 |
| DNMT3B | DNA methyltransferase 3 β | AR-Hom | 8 |
| BTK | Bruton tyrosine kinase | XL | 5 |
| ZBTB24 | Zinc finger and BTB domain containing 24 | AR-Hom | 5 |
| IL12RB1 | Interleukin 12 receptor subunit β 1 | AR-Hom | 4 |
| TACI/TNFRSF13B | Transmembrane activator and CAML interactor | AD | 4 |
| CD27 | CD27 molecule | AR-Hom | 3 |
| PIK3R1 | Phosphoinositide-3-kinase regulatory subunit 1 | AD | 3 |
| PMS2 | MS1 homolog 2, mismatch repair system component | AR-Hom | 3 |
| RAC2 | Rac family small GTPase 2 | AR-Hom | 3 |
| RAG1 | Recombination activating 1 | AR-Hom | 3 |
| AIRE | Autoimmune regulator | AR-Hom | 2 |
| BAFFR/TNFRSF13C | Tumor necrosis factor receptor superfamily member 13C | AR-Hom | 2 |
| BLNK | B-cell linker | AR-Hom | 2 |
| CD70 | CD70 molecule | AR-Hom | 2 |
| DCK1 | Dyskerin | XL | 2 |
| DCLRE1C | DNA cross-link repair 1C | AR-Hom | 2 |
| FOXP3 | Forkhead box P3 | XL | 2 |
| ICOS | Inducible T cell costimulator | AR-Hom | 2 |
| IGHM | Immunoglobulin heavy constant μ | AR-Hom | 2 |
| IL12RB2 | Interleukin 12 receptor subunit β 2 | AR-Hom | 2 |
| NFKB1 | Nuclear factor κ B subunit 1 | AD | 2 |
| PI3KR1 | Phosphoinositide-3-kinase regulatory subunit 1 | AD | 2 |
| PIK3CD | Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit Δ | AD | 2 |
| RFXANK | Regulatory factor X-associated ankyrin-containing protein | AR | 2 |
| XIAP | X-linked inhibitor of apoptosis | XL | 2 |
| AIDCA | Activation-induced cytidine deaminase | AR-Hom | 1 |
| CD19 | CD19 molecule | AR-Hom | 1 |
| DOCK8 | Dedicator of cytokinesis 8 | AR-Hom | 1 |
| IKBKB | Inhibitor of nuclear factor κ B kinase subunit Bet | AR-Hom | 1 |
| IKZF1 | IKAROS family zinc finger 1 | AD | 1 |
| IL12B | Interleukin 12B | AR-Hom | 1 |
| IL21R | Interleukin 21 receptor | AR-Hom | 1 |
| ITCH | Itchy E3 ubiquitin protein ligase | AR-Hom | 1 |
| JAK3 | Janus kinase 3 | AR-Hom | 1 |
| KMT2D | Lysine methyltransferase 2D | AD | 1 |
| LIG4 | DNA ligase 4 | AR-Hom | 1 |
| MAGT1 | Magnesium transporter 1 | XL | 1 |
| MKD | Mevalonate kinase | AR-Hom | 1 |
| NEHJ1 | Nonhomologous end joining factor 1 | AR-Hom | 1 |
| NFKB2 | Nuclear factor κ B subunit 2 | AD | 1 |
| PGM3 | Phosphoglucomutase 3 | AR-Hom | 1 |
| PLCG2 | Phospholipase C γ 2 | AR-Hom | 1 |
| PNP | Purine nucleoside phosphorylase | AR-Hom | 1 |
| PRKDC | Protein kinase, DNA-activated, catalytic subunit | AR-Hom | 1 |
| PSTPIP1 | Proline-serine-threonine phosphatase interacting protein 1 | AR-Hom | 1 |
| RFX5 | Regulatory factor ×5 | AR-Hom | 1 |
| STAT2 | Signal transducer and activator of transcription 2 | AR-Hom | 1 |
| TERT | Telomerase reverse transcriptase | AR-Hom | 1 |
| TTC7A | Tetratricopeptide repeat domain 7A | AR-Hom | 1 |
| ZAP70 | ζ chain of T-cell receptor-associated protein kinase 70 | AR-Hom | 1 |
N = 208; 113 subjects with mutations (54%).