Artemis mutation

Artemis deficiency is included in the most severe phenotype, T-B- SCID and it is inherited as an autosomal recessive trait. The disease is characterized by a profound deficiency of both T cell and B cell immunity. It is caused by a mutation of Artemis gene which codes for a novel V(D)J recombination/DNA repair factor that belongs to the metallo-lactamase superfamily.

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