Abstract
The expression of Major Histocompatibility Complex (MHC) molecule is
essential for homeostasis of the immune system. Tissue-specific
expression of MHC-II is regulated at the level of transcription. The
master regulator for transcription of the MHC-II gene is CIITA.
Homozygous mutations affecting the CIITA gene results in bare lymphocyte
syndrome type-II1. The clinical manifestations of
heterozygous mutations are not well reported. Hence, this case report
aims to provide more insight into the clinical features associated with
heterozygous mutations of CIITA. We report a 5-year-old child who had
presented with recurrent infections in infancy and systemic lupus
erythematosus (SLE) in toddler age.