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

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

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...

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Bibliographic Details
Main Authors: Aakash Chandran Chidambaram, Jaikumar Govindaswamy Ramamoorthy, Sriram Krishnamurthy, Prabhu Manivannan, Pediredla Karunakar
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2021-01-01
Series:Indian Pediatrics Case Reports
Subjects:
autoimmune
bare lymphocyte syndrome
immunodeficiency
major histocompatibility complex
systemic lupus erythematosus
Online Access:http://www.ipcares.org/article.asp?issn=2772-5170;year=2021;volume=1;issue=3;spage=179;epage=181;aulast=Chidambaram

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