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Dysregulated immune system secondary to novel heterozygous mutation of CIITA gene presenting with recurrent infections and Systemic lupus erythematosus
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  • Aakash Chandran Chidambaram,
  • Jaikumar Ramamoorthy,
  • Sriram Krishnamurthy,
  • Prabhu Manivannan,
  • Pediredla Karunakar
Aakash Chandran Chidambaram
Jawaharlal Institute of Postgraduate Medical Education and Research
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Jaikumar Ramamoorthy
Jawaharlal Institute of Post Graduate Medical Education
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Sriram Krishnamurthy
Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER)
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Prabhu Manivannan
Jawaharlal Institute of Postgraduate Medical Education and Research
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Pediredla Karunakar
Jawaharlal Institute of Postgraduate Medical Education and Research
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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-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.