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CASE REPORT
Year : 2021  |  Volume : 1  |  Issue : 3  |  Page : 179-181

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


1 Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India, Puducherry
2 Department of Pathology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India, Puducherry

Correspondence Address:
Dr. Jaikumar Govindaswamy Ramamoorthy
Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry - 605 006
Puducherry
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ipcares.ipcares_150_21

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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 result in bare lymphocyte syndrome type-II, but the clinical manifestations of heterozygous mutations are not well reported. Clinical Description: Herein, we describe the roller coaster course of a 6-year-old child who had presented with recurrent infections in infancy and systemic lupus erythematosus (SLE) in toddler age, who was later found to have heterozygous mutation in the CIITA gene. Management: The child was managed with immunosuppression for SLE and monthly intravenous immunoglobulin replacement therapy and daily cotrimoxazole prophylaxis for features of immunodeficiency. Conclusion: This case report aims to provide more insight into the clinical features associated with heterozygous mutations of CIITA.


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