Concept explainers
Case summary:
A patient, age 5 months reported with pneumocytosis which upon further investigation diagnosed as an immunodeficiency disorder called the Bare Lymphocyte Syndrome, Type II (BLSII).
Characters in the case:
Christina Kitchenman, the patient under evaluation.
Adequate information:
Initially patient reported with high fever and severe non-productive cough due to pneumocytosis (a fungal infection). Investigations were carried out that showed low CD4 T-cell count and slightly higher B-cell count when compared to normal reference levels. Further T-lymphocyte functionality tests and other tests revealed hypogammaglobulinemia. This is a state of deficiency of Class II MHC isotypes on WBCs without any deficiency of Class I MHC isotypes. As a treatment, she was given pentamidine and a successful bone marrow transplant.
To Determine:
The genetic defect in support of the diagnosis of Bare Lymphocyte Syndrome, Type II (BLSII).
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