Mendelian susceptibility to mycobacterium


Immune Response to MycobacteriaThis series of graphics shows the initial immune response to mycobacteria and how controlling a mycobacterial infection requires a cell-mediated immune response. The graphics show how this requires a functioning T-cell response with functioning macrophage, IL12, IFN-gamma and CD40 signaling interactions. Thus there are numerous genes coding for the products responsible for this complex immune interaction. Polymorphisms/mutations in these genes may therefore result in immune dysfunction.

The graphics explain Mendelian susceptibility to mycobacterial disease and where there is a breakdown in activation of the cell mediated immune response. The genetic aetiologies which are discussed in the graphics include:

1.    IFN-γR1 deficiency
2.    IFN-γR2 deficiency
3.    STAT-1 deficiency
4.    IL-12Rβ1 deficiency
5.    IL-12p40 deficiency
6.    CD40 signalling and NEMO

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