Immunological aspects of immunodeficiency diseases part 75

Immune 3


Mendelian susceptibility to mycobacterial disease (MSMD), mutations have been identified in:

  • The P40 subunit shared by IL-12 and IL-23 (also called IL12B)
  • The β chain shared by the IL-12 and IL-21 receptors
  • The TKY2 kinase required for signaling via the IL-12 receptor
  • The α and β chains of the IFN-γ receptor (IFN-γR1 and IFN-γ2)
  • The STAT-1 signal transducing molecule, which is required for signaling through the IFN-γ receptor
  • The seventh defect responsible for increased susceptibility to mycobacterial infection is that NFκB essential modulator gene, which is required for NFκB activation, which is critical for signal transduction via the Toll, IL-1, and TNF-α receptors

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