Genetic Abnormalities and SCID

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Questions and Answers

Which enzyme deficiency is responsible for about half the cases of autosomal recessive SCID?

  • Recombinase (RAG1 or RAG2)
  • Adenosine deaminase (ADA) (correct)
  • Purine nucleotide phosphorylase (PNP)
  • Endonuclease (Artemis)

Which type of cells are particularly susceptible to injury by purine metabolites in ADA deficiency?

  • Proliferating cells
  • B cells
  • T cells
  • Lymphocytes (correct)

Which gene mutation results in failure of B and T cell development?

  • PNP gene
  • RAG1 or RAG2 gene (correct)
  • Artemis gene
  • ADA gene

Which genetic abnormality is responsible for about half of the cases of SCID?

<p>Mutations in the IL-2 receptor (A)</p> Signup and view all the answers

Which type of cells are deficient in SCID patients with mutations in the IL-2 receptor?

<p>T cells (B)</p> Signup and view all the answers

What is the underlying cause of SCID?

<p>Defect in T cell development (A)</p> Signup and view all the answers

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