1. Figure 7 Defects in apoptosis
Figure 7 | Defects in apoptosis. Binding of Fas ligand (FasL; also known as TNF ligand superfamily member 6) to the extracellular domain of Fas (also known as TNF receptor superfamily member 6) leads to the formation of the death-inducing signalling complex, which is composed of 5–7 molecules of Fas and 5 molecules of Fas-associated death domain protein (FADD). FADD then interacts with procaspases 8 and 10, transforming them into active caspases. Active caspases 8 and 10 subsequently activate other procaspases, in particular procaspase 3, and initiate a proteolytic pathway that culminates in apoptosis. In patients with autoimmune lymphoproliferative syndrome (ALPS), genetic defects in any of these molecules can interfere with the apoptosis of lymphocytes, causing lymphocytes to accumulate and cause disease.
Schmidt, R. E. et al. (2017) Autoimmunity and primary immunodeficiency: two sides of the same coin?
Nat. Rev. Rheumatol. doi: /nrrheum