Version July 2023
| Disease | Gene(s) | NK cell defect | Infectious susceptibility |
| X-linked SCID | IL2RG | Development | Multiple infections |
| Autosomal recessive SCID | JAK3 | Development | Multiple infections |
| ADA | Survival | ||
| Bloom syndrome | BLM | Survival | Fungi, bacteria |
| Fanconi's anemia | FANCA-G | Survival | Multiple infections |
| Familial erythrophagocytic lymphohistiocytosis | PFP1, UNC13D, STX11, MUNC13-4, MUNC18-2 | Function: Cytotoxicity | Herpesviruses |
| Chediak-Higashi syndrome | LYST | Function: Cytotoxicity | EBV, fungi |
| Griscelli syndrome | RAB27A | Function: Cytotoxicity | Herpesviruses, bacteria |
| X-linked lymphoproliferative syndrome | SH2D1A, BIRC4 (XIAP) | Function: Cytotoxicity | EBV |
| Bare lymphocyte syndrome | TAP1, TAP2 | Function: Specific cytotoxicity | Bacteria |
| Leukocyte-adhesion deficiency | ITGB2 | Function: Target binding | Picornaviruses, bacteria, HSV |
| X-linked hyperimmunoglobulin-I | TNFSF5 | Development, function: Cytotoxicity | Enteroviruses, bacteria, pneumocystis |
| Paroxysmal nocturnal hemoglobinuria | PIGA | Function: Cytotoxicity | Multiple infections |
| Wiskott-Aldrich syndrome | WASP | Function: Cytotoxicity | Multiple infections |
| IL-12 receptor beta-1 deficiency | IL12RB1 | Function: Cytokine response and production | Mycobacteria, salmonella |
| Ectodermal dysplasia with immunodeficiency | NEMO | Function: Cytotoxicity | Mycobacteria, bacteria, CMV |
| Autoimmune lymphoproliferative syndrome with immunodeficiency | CASP8 | Function: Activation receptor-induced stimulation | Sinopulmonary bacterial Mucocutaneous herpesviruses |
| Familial erythrophagocytic lymphohistiocytosis type 3 | UNC13D | Function: Cytotoxicity | Herpesviruses |
| Familial erythrophagocytic lymphohistiocytosis type 4 | STX11 | Function: Cytotoxicity | Herpesviruses |
| Hermansky-Pudlak syndrome | AP3B1 | Function: Cytotoxicity | Sinopulmonary bacterial Herpesviruses |
| Papillon-Lefèvre syndrome | CTSC | Function: Cytotoxicity | Periodontitis (herpesvirus) |
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