Normal Response: IL-12 binds to receptors on T cells (specifically CD4+ Th1 cells) and Natural Killer (NK) cells via the IL-12Rβ1 chain.
Macrophage Activation: IFN-γ binds to receptors on infected macrophages, providing the critical "activation signal" required for the macrophage to destroy the intracellular bacteria.
The Mutation Defect: Loss-of-function mutations in IL-12Rβ1 chain (such as nonsense, frameshift, or splice-site variants) prevent the IL-12Rβ1 protein from being expressed on the cell surface or functioning properly.
Snapshot















