MHC class 1 peptide antigen processing > "Antigen peptides loaded onto MHC I in RER after delivery via TAP (transporter associated with antigen processing)" - First Aid 2019.

Bare lymphocyte syndrome type 2 (BLS II; affecting MHC II) is due to mutations in genes that code for transcription factors that normally regulate the expression (gene transcription) of the MHC II genes. Bare lymphocyte syndrome type 1 (BLS I; affecting MHC I), is much more rare, and is associated with TAP deficiencies.

ADA mutation = autosomal recessive SCID

IL-2-R gamma chain mutation = XLR SCID

IL-2-R alpha chain (CD25) = T-reg dysfunction; assoc with autoimmunity esp. T1DM, MS

Fas ligand (CD95) mutation = no T cell apoptosis in negative selection in thymic medulla = incr circulation of self-reacting lymphocyte = autoimmune lymphoproliferative syndrome

more info about Bare Lymphocyte Syndrome https://ghr.nlm.nih.gov/condition/bare-lymphocyte-syndrome-type-i#inheritance

Cool another question taken from the list of things not in FA