| Primary humoral immunodeficiency category | Gene defect | Full gene name | Inheritance |
| Agammaglobulinemia (severe reduction in all serum immunoglobulin isotypes with profoundly decreased or absent B cells) | BTK | Bruton tyrosine kinase | XL |
| IGHM | Immunoglobulin heavy constant mu | AR | |
| IGLL1 | Immunoglobulin lambda-like polypeptide 1 | AR | |
| CD79A | CD79a molecule | AR | |
| CD79B | CD79b molecule | AR | |
| BLNK | B cell linker | AR | |
| PIK3CD | Phosphoinositide-3-kinase catalytic subunit delta | AR | |
| PIK3R1 | Phosphoinositide-3-kinase regulatory subunit 1 | AR | |
| TCF3 | Transcription factor 3 | AD | |
| TCF3 | Transcription factor 3 | AR | |
| SLC39A7 | Solute carrier family 39 member 7 | AR | |
| SPI1 | Transcription factor PU.1 | AD | |
| FNIP1 | Folliculin interacting protein 1 | AR | |
| TOP2B | DNA topoisomerase 2-beta | AD | |
| Common variable immunodeficiency disease phenotype (severe reduction in at least 2 serum immunoglobulin isotypes with normal or low number of B cells) | PIK3CD (gain of function) | Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | AD |
| PIK3CG | Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | AR | |
| PIK3R1 | Phosphoinositide-3-kinase regulatory subunit 1 | AD | |
| PTEN | Phosphatase and tensin homolog | AD | |
| CD19 | CD19 molecule | AR | |
| CD81 | CD81 molecule | AR | |
| MS4A1 | Membrane spanning 4-domains A1 (CD20 molecule) | AR | |
| CR2 | Complement C3d receptor 2 (CD21 molecule) | AR | |
| TNFRSF13B | Tumor necrosis factor receptor superfamily member 13B | AD or AR | |
| TNFRSF13C | Tumor necrosis factor receptor superfamily member 13C | AR | |
| TNFSF12 | Tumor necrosis factor superfamily member 12 | AD | |
| TNFSF13 | Tumor necrosis factor superfamily member 13 | AR | |
| TRNT1 | tRNA nucleotidyl transferase 1 | AR | |
| NFKB1 | Nuclear factor kappa B subunit 1 | AD | |
| NFKB2 | Nuclear factor kappa B subunit 2 | AD | |
| IKZF1 (haploinsufficiency) | IKAROS family zinc finger 1 | AD | |
| IRF2BP2 | Interferon regulatory factor 2 binding protein 2 | AD | |
| ATP6AP1 | ATPase H+ transporting accessory protein 1 | XL | |
| ARHGEF1 | Rho guanine nucleotide exchange factor 1 | AR | |
| SH3KBP1 | SH3 domain containing kinase binding protein 1 | XL | |
| SEC61A1 | SEC61 translocon complex subunit alpha 1 | AD | |
| RAC2 | Rac family small GTPase 2 | AR | |
| MOGS | Mannosyl-oligosaccharide glucosidase | AR | |
| CTNNBL1 | Beta-catenin-like protein 1 | AR | |
| Hyper IgM (severe reduction in serum IgG and IgA with normal/elevated IgM and normal numbers of B cells) | AICDA | Activation-induced cytidine deaminase | AR |
| AICDA | Activation-induced cytidine deaminase | AD | |
| UNG | Uracil DNA glycosylase | AR | |
| INO80 | INO80 complex | AR | |
| MSH6 | MutS homolog 6 | AR | |
| Others (isotype, light chain, or functional deficiencies with generally normal numbers of B cells) | IGHM | Immunoglobulin heavy chain constant region mu | AR |
| IGKC | Immunoglobulin kappa light chain constant region | AR | |
| CARD11 (gain of function) | Caspase recruitment domain family member 11 | AD |
