| N-terminal domain | Contains the FAT (FRAP/ATM/TRRAP) domain involved in protein-protein interactions |
| Kinase domain | The catalytic domain at positions 2719-2960 contains the conserved PI3KK active site |
| C-terminal region | Contains the PRD (PIKK regulatory domain) and FATC (FAT C-terminal) domains essential for kinase activity |
| Leucine zipper regions | Two regions (positions 760-850 and 1230-1300) that may mediate dimerization |
| p53 | Phosphorylation at Ser15 promotes p53 stabilization and transcriptional activation of DNA repair genes |
| Chk2 | Phosphorylation at Thr68 leads to cell cycle arrest |
| H2AX | Phosphorylation at Ser139 (γH2AX) creates foci that amplify the DNA damage signal |
| BRCA1 | Phosphorylation facilitates homologous recombination repair |
| NF-κB | Activation leads to expression of anti-apoptotic genes |
| IgA deficiency | Present in 70-80% of patients, often with IgE elevation |
| IgG subclass deficiency | Particularly IgG2 and IgG4 |
| Cell-mediated defects | Reduced T-cell counts and function |
| Databases | OMIMOrphanetClinicalTrialsPubMed |