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The Immune Status of Two Bloom's Syndrome Siblings
The problem. Two sibling brothers have been previously diagnosed as Bloom's Syndrome (BS). Due to lack of demonstrable increased sister chromatid exchange (SCE) in their blood cells and fibroblasts, diagnosis of BS is in question. Procedure. This study examined the immune reactions of these siblings with such tests of immune function as: T- and B-cells, T-cell subsets, chemotaxis, nitroblue tetrazolium (NBT), mitogen stimulation and mixed lymphocyte culture (MLC). Findings. Results are compared with those of other known BS subjects. Analysis of our patients' immune systems seems to agree with findings of previous studies. Conclusion. While there is a correlation of immunological and clinical data, genetically there are none of the expected abnormalities. This study has not ruled out the possibility of a misdiagnosis of BS.
32 leaves. Advisor: Dean Hoganson