Multiple choice

Mutations in the gene encoding which of the following, most commonly results in severe combined immunodeficiency (SCID)?

  1. Adenosine deaminase (ADA)

  2. Interleukin 7 receptor alpha chain

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

  4. RAG 2 (recombination activating gene 2)

  5. Artemis
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 utilized by the receptors for IL-2, -4, -7, -9 and -21.

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