Which mutations are known to contribute to Autoimmune Lymphoproliferative Syndrome (ALPS)?

Autoimmune Lymphoproliferative Syndrome (ALPS) is primarily associated with defects in the apoptotic pathways that regulate lymphocyte survival and proliferation. The most notable mutations contributing to ALPS involve the Fas receptor (CD95) and its ligand (FasL), as well as components of the apoptotic cascade, particularly caspases.

Mutations in Fas (CD95) disrupt the ability of the immune system to appropriately regulate lymphocyte death, leading to lymphocyte accumulation and autoimmune manifestations. Similarly, mutations in FasL can prevent the proper signaling needed for inducing apoptosis in Fas-expressing cells. Furthermore, caspase 10, which plays a critical role in the extrinsic apoptotic pathway initiated by Fas engagement, is also implicated in ALPS when mutated.

Caspase 3, while important for apoptosis, is not the primary mutation associated with ALPS in the context of the disease mechanisms studied. The other options listed do not focus on the specific mutations linked with ALPS. CD4, CD8, and TCR mutations relate more to T cell function and are not recognized as direct contributors to ALPS, while mutations in IL-2 and perforin pertain to other immunological disorders involved in different forms of