Article
Artemis splice defects cause atypical SCID and can be restored in vitro by an antisense oligonucleotide.
Genes and immunity - 1 Sept 2011
Ijspeert H, Lankester A C, van den Berg J M, Wiegant W, van Zelm M C, Weemaes C M R, Warris A, Pan-Hammarström Q, Pastink A, van Tol M J D, van Dongen J J M, van Gent D C, van der Burg M
Abstract excerpt
Artemis deficiency is known to result in classical T-B- severe combined immunodeficiency (SCID) in case of Artemis null mutations, or Omenn's syndrome in case of hypomorphic mutations in the Artemis gene. We describe two unrelated patients with a relatively mild clinical T-B- SCID phenotype, caused by different homozygous Artemis splice-site mutations. The splice-site mutations concern either dysfunction of a 5'...
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