Multiple choice

Mutations in the gene encoding can leads to severe diseases in human beings. Which of the following mutations in the gene encoding most commonly results in severe combined immunodeficiency (SCID)?

  1. Artemis

  2. RAG 2 (recombination activating gene 2)

  3. Gamma C interleukin receptor component of the interleukin 15 receptor

  4. Interleukin 7 receptor alpha chain

  5. Adenosine deaminase (ADA)
Reveal answer Fill a bubble to check yourself
C Correct answer
Explanation

Gamma C deficiency is responsible for about 40% of cases of SCID and, together with JAK 3 deficiency, results in a T-B+NK- phenotype. It is also utilised by the receptors for IL-2, -4, -7, -9 and -21.

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