Novel heterozygous mutation of CIITA gene presenting with recurrent infections and systemic lupus erythematosus

• Main Authors: Aakash Chandran Chidambaram (Author), Jaikumar Govindaswamy Ramamoorthy (Author), Sriram Krishnamurthy (Author), Prabhu Manivannan (Author), Pediredla Karunakar (Author)
• Format: Book
• Published: Wolters Kluwer Medknow Publications, 2021-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Background: The expression of major histocompatibility complex (MHC) molecule is essential for homeostasis of the immune system. The expression of MHC-II is regulated by the master regulator for transcription, the Class II transactivator (CIITA) gene. Homozygous mutations affecting the CIITA gene re...