... in patient VIP2. CIITA deficiency was caused by a homozygous p.Glu381X mutation. RFXAP deficiency resulted from a homozygous p.Ser123ThrfsX15 mutation, not described in the Middle European population so far. Of note, HLA class II-associated invariant chain (Ii) expression levels were significantly reduced...

...Carlos A. Barrera; Ruben J. Almanza; Pearay L. Ogra; Victor E. Reyes The invariant chain (Ii) due to its intimate association with major histocompatibility complex (MHC) α and β chains is a determining element in the development of immune responses. Ii plays a major role in the assembly...