Bare Lymphocyte Syndrome, Type II (CIITA)

Bare lymphocyte syndrome, type II is an autosomal recessive severe combined immunodeficiency disorder caused by pathogenic variants in the gene CIITA. It is a pan-ethnic disease with symptoms including infections of the respiratory system and gastrointestinal tract present during the first year of life. In addition, individuals are extremely susceptible to viral infections that cause diarrhea, severe malabsorption, and failure to thrive. With no effective treatment, lifespan is shortened and death is often attributed to chronic diarrhea, repeated bacterial infections, and viral infections during childhood. No genotype-phenotype correlation has been reported.

For information about carrier frequency and residual risk, please see the Expanded Carrier Screen brochure.