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

Abstract

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.

Keywords

• autoimmune
• bare lymphocyte syndrome
• immunodeficiency
• major histocompatibility complex
• systemic lupus erythematosus