Severe Combined Immune Deficiency

Artemis: A little bit is not enough

Published in Immunotherapy Weekly, February 26th, 2003

Two years ago, when studying children with severe combined immune deficiency and reduced tolerance to radiation, Jean-Pierre de Villartay and colleagues of the Hopital Necker Enfants-Malades in Paris found that the disease was caused by mutations in a particular gene. They called the gene Artemis, after the Greek patroness of children and animals.

Subsequent studies showed that the gene's protein product is involved in the repair of broken DNA, therefore explaining the children's illness: The generation of the vast repertoire of immune cells (B and T cells) that protect us against pathogens involves the breakage and rejoining of DNA. Exposure to radiation also results...

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Source: Immunotherapy Weekly (2003-02-26)

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