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The patient is Daniel - an infant male presenting with ongoing back-to-back bacterial infections. HIV testing was done, and came back negative. More extensive blood testing has been done, and a genetic counselor has been consulted for genetic testing as well. Test results show that the patient has normal counts for both B and T cells, but that his IgG, IgA, and IgE were nearly undetectable because they were so low, and his IgM and IgD were abnormally high. Genetic counselor says that genetic testing revealed X-linked agammaglobulinemia with hyper-IgM syndrome. Recommended treatment is immunoglobulin infusions every three to four weeks until a suitable bone marrow transplant (or even better, a cord blood stem cell transplant from an HLA sibling) can be performed. Parents have been advised of risks with this treatment method.
1. Looking over this list of antibodies, do Daniel's recurrent lung infections make sense? Why?
2. How does the failure of immunological isotype switching explain the lack of IgG, IgA, and IgE in Daniel's blood?
3. Which cells have the CD40 ligand? Which cells have the CD40 receptor? What does their interaction cause? How does this explain Daniel's immunological de?ciency?
4. How can a bone marrow or cord blood stem cell transplant cure Daniel?
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