Article
Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis.
The Journal of clinical investigation - 1 Feb 2003
Moshous Despina, Pannetier Christophe, Chasseval Rd Régina de, Deist Fl Françoise le, Cavazzana-Calvo Marina, Romana Serge, Macintyre Elizabeth, Canioni Danielle, Brousse Nicole, Fischer Alain, Casanova Jean-Laurent, Villartay Jean-Pierre de
Abstract excerpt
We have previously described the identification of Artemis, a factor involved in the nonhomologous end joining (NHEJ) phase of V(D)J recombination of T and B cell receptor genes. Null mutations of the Artemis gene result in a complete absence of T and B lymphocytes that is associated with increased cell radiosensitivity, causing the radiosensitive T(-)B(-) SCID (RS-SCID) condition. We presently report the...
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