Major histocompatibility complex class II deficiency: A rare inborn error immunity disorder
Main Article Content
Abstract
Major histocompatibility complex class II deficiency is a rare inborn error of immunity disorder characterized by recurrent respiratory and gastrointestinal infections, malnutrition, and early death. This syndrome is caused by mutations in transcription regulators of the MHC II gene. Genetic tests revealed a compound heterozygous mutation in CIITA gene; consequently, the child was diagnosed with class II histocompatibility complex deficiency. He was treated aggressively with antibiotics, antifungals, immunoglobulins replacement therapy, and hematopoietic stem cell transplantation, but passed away despite all treatment. Clinicians should be aware of inborn errors of immunity in children with early-onset recurrent infections in the first year of life.
Article Details
Keywords
MHC class II deficiency, inborn error immunity, reccurent infection
References
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