Dysregulated immune system secondary to novel heterozygous mutation of
CIITA gene presenting with recurrent infections and Systemic lupus
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-II. 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.