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case 3 - Mr and Mrs Alden moved to Boston with seven...

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Mr. and Mrs. Alden moved to Boston with seven healthy children – 4 boys and 3 girls. Their eighth child was a boy who developed severe pneumonia at 3 mths old and died at City Hospital. An autopsy reveals that his thymus had a fetal appearance with only rare thymocytes. Two years later, the Aldens had a daughter who appeared healthy at birth but at 3 wks of age, she developed deeply pigmented spots on her trunk and face. Three wks later, Mrs. Alden noticed thrush in the child's mouth. This child’s lymphocyte count was 150 cells / ul and her lymphocytes did not respond to PHA. She was subsequently diagnosed with ADA deficient SCID? 1. What are the treatment options for a patient diagnosed with ADA deficiency? 2. What are the pros and cons of each based on current information? 3. What is the genotype and phenotype of the parents? A 9 month old, 6.8 kg boy, has been admitted to the hospital for community acquired pneumonia (CAP). His past medical history is significant for a prior CAP at 3 months of age requiring hospitalization.
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