Concept explainers
Case summary:
A patient, age 16years reported with chronic granulomatous inflammation, which upon further investigation diagnosed as an immunodeficiency disorder called the Bare Lymphocyte Syndrome, Type I (BLSI).
Characters in the case:
Britanny Hudson, the patient under evaluation.
Adequate information:
Initially patient reported with small pustules around the nostrils that progressed to a state of ulceration called chronic granulomatous inflammation. Her clinical history revealed similar lesion on the left thigh in the previous year which healed very slowly. Also, she was prone to recurrent upper and lower respiratory tract infection. Investigations indicate a state of deficiency of Class I MHC molecules on cell surfaces along with abnormally low CD8 T cell count.
To Determine:
The deficiency of which protein is associated with the Bare Lymphocyte Syndrome, Type I (BLSI).
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