There are many defects that result in severe combined immunodeficiency disorder. List
four and briefly define them.
What will be an ideal response
1. Reticular dysgenesis—stem cell defect in which neither the lymphoid or myeloid line is produced.
2. Adenosine deaminase (ADA) deficiency—ADA detoxifies adenosine and deoxyadenosine nucleotides. When it is
missing, cells die. Rapidly replaced cells such as lymphocytes are the most vulnerable.
3. Il-2 receptor defect—T lymphocytes and NK cells are absent; B cells are nonfunctional.
4. RAG1 and RAG2 deficiency—T and B cell receptor gene rearrangements cannot occur, so T and B cells fail to
develop.
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