Case Study 1
Due October 8 2015
Jeremiah was a healthy baby boy who weighed 3.5 Kg at birth.
He was breast-fed until he was 5 months old and appeared healthy. Then he started to develop rashes and recurrent infections. He suffered from alopecia, lack of hair in eyebrows and eye lashes. He was described as failure to thrive due to limited growth and weight gain. He was admitted into the Children’s hospital. An immunologist was consulted. His white blood cell count was 8000 μl−1 (normal), of which 56% were eosinophils (normal <5%), 23% monocytes (normal 10%), 15% neutrophils, and 6% lymphocytes (normal 50%). She ordered blood tests that revealed an absence of B cells, a paucity of T cells and normal numbers of NK cells. Phagocytosis assays, respiratory burst, lysozyme and C-reactive protein levels were all normal.
The RAG1 and RAG2 genes as well as DNA-PK were sequenced and were found to be normal. Jeremiah’s family history revealed that he has one brother with similar recurrent infections and one sister who is unaffected. Both parents were healthy.
7.- What assay would you perform in the lab to identify the enzymatic deficiency?
8.- If Jeremiah breaks a bone later on in his life, would you advice his parents to get X-rays of the fracture bones or not?
9.- Why is Jeremiah’s condition associated with skin manifestation such as lack of hair?
10.- Suggest possible therapies for this condition.