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

• Glavni autori: Aakash Chandran Chidambaram (Autor), Jaikumar Govindaswamy Ramamoorthy (Autor), Sriram Krishnamurthy (Autor), Prabhu Manivannan (Autor), Pediredla Karunakar (Autor)
• Format: Knjiga
• Izdano: Wolters Kluwer Medknow Publications, 2021-01-01T00:00:00Z.
• Teme: article
• Online pristup: 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...